SNP Links for Protein (Select 1060085922) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 1606

<< First< Prev

Page of 81

Next >Last >>

Select item 14908402371.

rs1490840237 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:51970739 (GRCh38)
13:52544875 (GRCh37)
Canonical SPDI:: NC_000013.11:51970738:A:T
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.51970739A>T, NC_000013.10:g.52544875A>T, NG_008806.1:g.45756T>A, NM_000053.4:c.1296T>A, NM_000053.3:c.1296T>A, NM_001005918.3:c.1296T>A, NM_001005918.2:c.1296T>A, NM_001330578.2:c.1296T>A, NM_001330578.1:c.1296T>A, NM_001330579.2:c.1296T>A, NM_001330579.1:c.1296T>A, NM_001243182.2:c.963T>A, NM_001243182.1:c.963T>A, NM_001406512.1:c.1296T>A, NM_001406516.1:c.1296T>A, NM_001406532.1:c.1296T>A, NM_001406522.1:c.1296T>A, NM_001406518.1:c.1200T>A, NM_001406511.1:c.1296T>A, NM_001406513.1:c.1296T>A, NM_001406528.1:c.1296T>A, NM_001406514.1:c.1296T>A, NM_001406515.1:c.1296T>A, NM_001406521.1:c.1296T>A, NM_001406517.1:c.1200T>A, NM_001406519.1:c.1296T>A, NM_001406520.1:c.1296T>A, NM_001406524.1:c.1296T>A, NM_001406527.1:c.1296T>A, NM_001406523.1:c.1296T>A, NM_001406525.1:c.1296T>A, NM_001406531.1:c.1296T>A, NM_001406526.1:c.1296T>A, NM_001406530.1:c.1200T>A, NM_001406537.1:c.1296T>A, NM_001406534.1:c.1296T>A, NM_001406539.1:c.867T>A, NM_001406543.1:c.1200T>A, NM_001406536.1:c.1200T>A, NM_001406535.1:c.1296T>A, NM_001406538.1:c.1296T>A, NM_001406541.1:c.1296T>A, NM_001406540.1:c.1296T>A, NM_001406542.1:c.1296T>A, NM_001406544.1:c.1200T>A, NM_001406545.1:c.1296T>A, NM_001406546.1:c.1296T>A, NM_001406547.1:c.1296T>A, XM_005266430.5:c.1296T>A, XM_005266424.5:c.1200T>A, XM_005266424.4:c.1200T>A, XM_005266424.3:c.1200T>A, XM_005266424.2:c.1200T>A, XM_005266424.1:c.1200T>A, XM_005266431.5:c.1260T>A, XM_005266431.4:c.1260T>A, XM_005266431.3:c.1260T>A, XM_005266431.2:c.1260T>A, XM_005266431.1:c.1260T>A, XM_011535117.4:c.1200T>A, XM_011535117.3:c.1200T>A, XM_011535117.2:c.1200T>A, XM_011535117.1:c.1200T>A, XM_006719837.4:c.1200T>A, XM_005266423.3:c.1200T>A, XM_005266423.2:c.1200T>A, XM_005266423.1:c.1200T>A, XM_017020627.2:c.1200T>A, XM_017020627.1:c.1200T>A, XM_047430385.1:c.1296T>A, XM_047430387.1:c.1296T>A, XM_047430386.1:c.1296T>A, XM_047430388.1:c.1296T>A, XM_047430389.1:c.1296T>A, XM_047430390.1:c.-37T>A

Select item 14893840712.

rs1489384071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 13:51974848 (GRCh38)
13:52548984 (GRCh37)
Canonical SPDI:: NC_000013.11:51974847:G:C,NC_000013.11:51974847:G:T
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
C=0.000029/4 (GnomAD)
HGVS:: NC_000013.11:g.51974848G>C, NC_000013.11:g.51974848G>T, NC_000013.10:g.52548984G>C, NC_000013.10:g.52548984G>T, NG_008806.1:g.41647C>G, NG_008806.1:g.41647C>A, NM_000053.4:c.372C>G, NM_000053.4:c.372C>A, NM_000053.3:c.372C>G, NM_000053.3:c.372C>A, NM_001005918.3:c.372C>G, NM_001005918.3:c.372C>A, NM_001005918.2:c.372C>G, NM_001005918.2:c.372C>A, NM_001330578.2:c.372C>G, NM_001330578.2:c.372C>A, NM_001330578.1:c.372C>G, NM_001330578.1:c.372C>A, NM_001330579.2:c.372C>G, NM_001330579.2:c.372C>A, NM_001330579.1:c.372C>G, NM_001330579.1:c.372C>A, NM_001243182.2:c.372C>G, NM_001243182.2:c.372C>A, NM_001243182.1:c.372C>G, NM_001243182.1:c.372C>A, NM_001406512.1:c.372C>G, NM_001406512.1:c.372C>A, NM_001406516.1:c.372C>G, NM_001406516.1:c.372C>A, NM_001406532.1:c.372C>G, NM_001406532.1:c.372C>A, NM_001406522.1:c.372C>G, NM_001406522.1:c.372C>A, NM_001406518.1:c.276C>G, NM_001406518.1:c.276C>A, NM_001406511.1:c.372C>G, NM_001406511.1:c.372C>A, NM_001406513.1:c.372C>G, NM_001406513.1:c.372C>A, NM_001406528.1:c.372C>G, NM_001406528.1:c.372C>A, NM_001406514.1:c.372C>G, NM_001406514.1:c.372C>A, NM_001406515.1:c.372C>G, NM_001406515.1:c.372C>A, NM_001406521.1:c.372C>G, NM_001406521.1:c.372C>A, NM_001406517.1:c.276C>G, NM_001406517.1:c.276C>A, NM_001406519.1:c.372C>G, NM_001406519.1:c.372C>A, NM_001406520.1:c.372C>G, NM_001406520.1:c.372C>A, NM_001406524.1:c.372C>G, NM_001406524.1:c.372C>A, NM_001406527.1:c.372C>G, NM_001406527.1:c.372C>A, NM_001406523.1:c.372C>G, NM_001406523.1:c.372C>A, NM_001406525.1:c.372C>G, NM_001406525.1:c.372C>A, NM_001406531.1:c.372C>G, NM_001406531.1:c.372C>A, NM_001406526.1:c.372C>G, NM_001406526.1:c.372C>A, NM_001406530.1:c.276C>G, NM_001406530.1:c.276C>A, NM_001406537.1:c.372C>G, NM_001406537.1:c.372C>A, NM_001406534.1:c.372C>G, NM_001406534.1:c.372C>A, NM_001406539.1:c.276C>G, NM_001406539.1:c.276C>A, NM_001406543.1:c.276C>G, NM_001406543.1:c.276C>A, NM_001406536.1:c.276C>G, NM_001406536.1:c.276C>A, NM_001406535.1:c.372C>G, NM_001406535.1:c.372C>A, NM_001406538.1:c.372C>G, NM_001406538.1:c.372C>A, NM_001406541.1:c.372C>G, NM_001406541.1:c.372C>A, NM_001406540.1:c.372C>G, NM_001406540.1:c.372C>A, NM_001406542.1:c.372C>G, NM_001406542.1:c.372C>A, NM_001406544.1:c.276C>G, NM_001406544.1:c.276C>A, NM_001406545.1:c.372C>G, NM_001406545.1:c.372C>A, NM_001406546.1:c.372C>G, NM_001406546.1:c.372C>A, NM_001406547.1:c.372C>G, NM_001406547.1:c.372C>A, NM_001406548.1:c.372C>G, NM_001406548.1:c.372C>A, XM_005266430.5:c.372C>G, XM_005266430.5:c.372C>A, XM_005266424.5:c.276C>G, XM_005266424.5:c.276C>A, XM_005266424.4:c.276C>G, XM_005266424.4:c.276C>A, XM_005266424.3:c.276C>G, XM_005266424.3:c.276C>A, XM_005266424.2:c.276C>G, XM_005266424.2:c.276C>A, XM_005266424.1:c.276C>G, XM_005266424.1:c.276C>A, XM_005266431.5:c.336C>G, XM_005266431.5:c.336C>A, XM_005266431.4:c.336C>G, XM_005266431.4:c.336C>A, XM_005266431.3:c.336C>G, XM_005266431.3:c.336C>A, XM_005266431.2:c.336C>G, XM_005266431.2:c.336C>A, XM_005266431.1:c.336C>G, XM_005266431.1:c.336C>A, XM_011535117.4:c.276C>G, XM_011535117.4:c.276C>A, XM_011535117.3:c.276C>G, XM_011535117.3:c.276C>A, XM_011535117.2:c.276C>G, XM_011535117.2:c.276C>A, XM_011535117.1:c.276C>G, XM_011535117.1:c.276C>A, XM_006719837.4:c.276C>G, XM_006719837.4:c.276C>A, XM_005266423.3:c.276C>G, XM_005266423.3:c.276C>A, XM_005266423.2:c.276C>G, XM_005266423.2:c.276C>A, XM_005266423.1:c.276C>G, XM_005266423.1:c.276C>A, XM_017020627.2:c.276C>G, XM_017020627.2:c.276C>A, XM_017020627.1:c.276C>G, XM_017020627.1:c.276C>A, XM_047430385.1:c.372C>G, XM_047430385.1:c.372C>A, XM_047430387.1:c.372C>G, XM_047430387.1:c.372C>A, XM_047430386.1:c.372C>G, XM_047430386.1:c.372C>A, XM_047430388.1:c.372C>G, XM_047430388.1:c.372C>A, XM_047430389.1:c.372C>G, XM_047430389.1:c.372C>A, NP_000044.2:p.Ser124Arg, NP_000044.2:p.Ser124Arg, NP_001005918.1:p.Ser124Arg, NP_001005918.1:p.Ser124Arg, NP_001317507.1:p.Ser124Arg, NP_001317507.1:p.Ser124Arg, NP_001317508.1:p.Ser124Arg, NP_001317508.1:p.Ser124Arg, NP_001230111.1:p.Ser124Arg, NP_001230111.1:p.Ser124Arg, XP_005266487.1:p.Ser124Arg, XP_005266487.1:p.Ser124Arg, XP_005266481.1:p.Ser92Arg, XP_005266481.1:p.Ser92Arg, XP_005266488.1:p.Ser112Arg, XP_005266488.1:p.Ser112Arg, XP_011533419.1:p.Ser92Arg, XP_011533419.1:p.Ser92Arg, XP_006719900.1:p.Ser92Arg, XP_006719900.1:p.Ser92Arg, XP_005266480.1:p.Ser92Arg, XP_005266480.1:p.Ser92Arg, XP_016876116.1:p.Ser92Arg, XP_016876116.1:p.Ser92Arg, XP_047286341.1:p.Ser124Arg, XP_047286341.1:p.Ser124Arg, XP_047286343.1:p.Ser124Arg, XP_047286343.1:p.Ser124Arg, XP_047286342.1:p.Ser124Arg, XP_047286342.1:p.Ser124Arg, XP_047286344.1:p.Ser124Arg, XP_047286344.1:p.Ser124Arg, XP_047286345.1:p.Ser124Arg, XP_047286345.1:p.Ser124Arg

Select item 14885879333.

rs1488587933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:51946454 (GRCh38)
13:52520590 (GRCh37)
Canonical SPDI:: NC_000013.11:51946453:T:G
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.51946454T>G, NC_000013.10:g.52520590T>G, NG_008806.1:g.70041A>C, NM_000053.4:c.2890A>C, NM_000053.3:c.2890A>C, NM_001005918.3:c.2269A>C, NM_001005918.2:c.2269A>C, NM_001330578.2:c.2656A>C, NM_001330578.1:c.2656A>C, NM_001330579.2:c.2638A>C, NM_001330579.1:c.2638A>C, NM_001243182.2:c.2557A>C, NM_001243182.1:c.2557A>C, NM_001406512.1:c.2890A>C, NM_001406516.1:c.2836A>C, NM_001406532.1:c.2638A>C, NM_001406522.1:c.2746A>C, NM_001406518.1:c.2794A>C, NM_001406511.1:c.2890A>C, NM_001406513.1:c.2890A>C, NM_001406528.1:c.2656A>C, NM_001406514.1:c.2857A>C, NM_001406515.1:c.2836A>C, NM_001406521.1:c.2746A>C, NM_001406517.1:c.2794A>C, NM_001406519.1:c.2755A>C, NM_001406520.1:c.2746A>C, NM_001406524.1:c.2713A>C, NM_001406527.1:c.2656A>C, NM_001406523.1:c.2890A>C, NM_001406531.1:c.2638A>C, NM_001406526.1:c.2890A>C, NM_001406530.1:c.2650A>C, NM_001406534.1:c.2602A>C, NM_001406539.1:c.2461A>C, NM_001406543.1:c.2542A>C, NM_001406536.1:c.2560A>C, NM_001406538.1:c.2656A>C, NM_001406541.1:c.2404A>C, NM_001406542.1:c.2404A>C, NM_001406544.1:c.2308A>C, NM_001406545.1:c.2242A>C, NM_001406548.1:c.1600A>C, XM_005266430.5:c.2890A>C, XM_005266424.5:c.2794A>C, XM_005266424.4:c.2794A>C, XM_005266424.3:c.2794A>C, XM_005266424.2:c.2794A>C, XM_005266424.1:c.2794A>C, XM_005266431.5:c.2854A>C, XM_005266431.4:c.2854A>C, XM_005266431.3:c.2854A>C, XM_005266431.2:c.2854A>C, XM_005266431.1:c.2854A>C, XM_011535117.4:c.2794A>C, XM_011535117.3:c.2794A>C, XM_011535117.2:c.2794A>C, XM_011535117.1:c.2794A>C, XM_006719837.4:c.2794A>C, XM_005266423.3:c.2794A>C, XM_005266423.2:c.2794A>C, XM_005266423.1:c.2794A>C, XM_017020627.2:c.2794A>C, XM_017020627.1:c.2794A>C, XM_047430385.1:c.2755A>C, XM_047430387.1:c.2656A>C, XM_047430386.1:c.2890A>C, XM_047430388.1:c.2638A>C, XM_047430389.1:c.2404A>C, XM_047430390.1:c.1558A>C, XM_047430391.1:c.898A>C, XM_047430392.1:c.706A>C, XM_047430393.1:c.706A>C, NP_000044.2:p.Thr964Pro, NP_001005918.1:p.Thr757Pro, NP_001317507.1:p.Thr886Pro, NP_001317508.1:p.Thr880Pro, NP_001230111.1:p.Thr853Pro, XP_005266487.1:p.Thr964Pro, XP_005266481.1:p.Thr932Pro, XP_005266488.1:p.Thr952Pro, XP_011533419.1:p.Thr932Pro, XP_006719900.1:p.Thr932Pro, XP_005266480.1:p.Thr932Pro, XP_016876116.1:p.Thr932Pro, XP_047286341.1:p.Thr919Pro, XP_047286343.1:p.Thr886Pro, XP_047286342.1:p.Thr964Pro, XP_047286344.1:p.Thr880Pro, XP_047286345.1:p.Thr802Pro, XP_047286346.1:p.Thr520Pro, XP_047286347.1:p.Thr300Pro, XP_047286348.1:p.Thr236Pro, XP_047286349.1:p.Thr236Pro

Select item 14880505014.

rs1488050501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:51974208 (GRCh38)
13:52548344 (GRCh37)
Canonical SPDI:: NC_000013.11:51974207:G:A,NC_000013.11:51974207:G:C
Gene:: ATP7B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.51974208G>A, NC_000013.11:g.51974208G>C, NC_000013.10:g.52548344G>A, NC_000013.10:g.52548344G>C, NG_008806.1:g.42287C>T, NG_008806.1:g.42287C>G, NM_000053.4:c.1012C>T, NM_000053.4:c.1012C>G, NM_000053.3:c.1012C>T, NM_000053.3:c.1012C>G, NM_001005918.3:c.1012C>T, NM_001005918.3:c.1012C>G, NM_001005918.2:c.1012C>T, NM_001005918.2:c.1012C>G, NM_001330578.2:c.1012C>T, NM_001330578.2:c.1012C>G, NM_001330578.1:c.1012C>T, NM_001330578.1:c.1012C>G, NM_001330579.2:c.1012C>T, NM_001330579.2:c.1012C>G, NM_001330579.1:c.1012C>T, NM_001330579.1:c.1012C>G, NM_001406512.1:c.1012C>T, NM_001406512.1:c.1012C>G, NM_001406516.1:c.1012C>T, NM_001406516.1:c.1012C>G, NM_001406532.1:c.1012C>T, NM_001406532.1:c.1012C>G, NM_001406522.1:c.1012C>T, NM_001406522.1:c.1012C>G, NM_001406518.1:c.916C>T, NM_001406518.1:c.916C>G, NM_001406511.1:c.1012C>T, NM_001406511.1:c.1012C>G, NM_001406513.1:c.1012C>T, NM_001406513.1:c.1012C>G, NM_001406528.1:c.1012C>T, NM_001406528.1:c.1012C>G, NM_001406514.1:c.1012C>T, NM_001406514.1:c.1012C>G, NM_001406515.1:c.1012C>T, NM_001406515.1:c.1012C>G, NM_001406521.1:c.1012C>T, NM_001406521.1:c.1012C>G, NM_001406517.1:c.916C>T, NM_001406517.1:c.916C>G, NM_001406519.1:c.1012C>T, NM_001406519.1:c.1012C>G, NM_001406520.1:c.1012C>T, NM_001406520.1:c.1012C>G, NM_001406524.1:c.1012C>T, NM_001406524.1:c.1012C>G, NM_001406527.1:c.1012C>T, NM_001406527.1:c.1012C>G, NM_001406523.1:c.1012C>T, NM_001406523.1:c.1012C>G, NM_001406525.1:c.1012C>T, NM_001406525.1:c.1012C>G, NM_001406531.1:c.1012C>T, NM_001406531.1:c.1012C>G, NM_001406526.1:c.1012C>T, NM_001406526.1:c.1012C>G, NM_001406530.1:c.916C>T, NM_001406530.1:c.916C>G, NM_001406537.1:c.1012C>T, NM_001406537.1:c.1012C>G, NM_001406534.1:c.1012C>T, NM_001406534.1:c.1012C>G, NM_001406543.1:c.916C>T, NM_001406543.1:c.916C>G, NM_001406536.1:c.916C>T, NM_001406536.1:c.916C>G, NM_001406535.1:c.1012C>T, NM_001406535.1:c.1012C>G, NM_001406538.1:c.1012C>T, NM_001406538.1:c.1012C>G, NM_001406541.1:c.1012C>T, NM_001406541.1:c.1012C>G, NM_001406540.1:c.1012C>T, NM_001406540.1:c.1012C>G, NM_001406542.1:c.1012C>T, NM_001406542.1:c.1012C>G, NM_001406544.1:c.916C>T, NM_001406544.1:c.916C>G, NM_001406545.1:c.1012C>T, NM_001406545.1:c.1012C>G, NM_001406546.1:c.1012C>T, NM_001406546.1:c.1012C>G, NM_001406547.1:c.1012C>T, NM_001406547.1:c.1012C>G, NM_001406548.1:c.1012C>T, NM_001406548.1:c.1012C>G, XM_005266430.5:c.1012C>T, XM_005266430.5:c.1012C>G, XM_005266424.5:c.916C>T, XM_005266424.5:c.916C>G, XM_005266424.4:c.916C>T, XM_005266424.4:c.916C>G, XM_005266424.3:c.916C>T, XM_005266424.3:c.916C>G, XM_005266424.2:c.916C>T, XM_005266424.2:c.916C>G, XM_005266424.1:c.916C>T, XM_005266424.1:c.916C>G, XM_005266431.5:c.976C>T, XM_005266431.5:c.976C>G, XM_005266431.4:c.976C>T, XM_005266431.4:c.976C>G, XM_005266431.3:c.976C>T, XM_005266431.3:c.976C>G, XM_005266431.2:c.976C>T, XM_005266431.2:c.976C>G, XM_005266431.1:c.976C>T, XM_005266431.1:c.976C>G, XM_011535117.4:c.916C>T, XM_011535117.4:c.916C>G, XM_011535117.3:c.916C>T, XM_011535117.3:c.916C>G, XM_011535117.2:c.916C>T, XM_011535117.2:c.916C>G, XM_011535117.1:c.916C>T, XM_011535117.1:c.916C>G, XM_006719837.4:c.916C>T, XM_006719837.4:c.916C>G, XM_005266423.3:c.916C>T, XM_005266423.3:c.916C>G, XM_005266423.2:c.916C>T, XM_005266423.2:c.916C>G, XM_005266423.1:c.916C>T, XM_005266423.1:c.916C>G, XM_017020627.2:c.916C>T, XM_017020627.2:c.916C>G, XM_017020627.1:c.916C>T, XM_017020627.1:c.916C>G, XM_047430385.1:c.1012C>T, XM_047430385.1:c.1012C>G, XM_047430387.1:c.1012C>T, XM_047430387.1:c.1012C>G, XM_047430386.1:c.1012C>T, XM_047430386.1:c.1012C>G, XM_047430388.1:c.1012C>T, XM_047430388.1:c.1012C>G, XM_047430389.1:c.1012C>T, XM_047430389.1:c.1012C>G, NP_000044.2:p.His338Tyr, NP_000044.2:p.His338Asp, NP_001005918.1:p.His338Tyr, NP_001005918.1:p.His338Asp, NP_001317507.1:p.His338Tyr, NP_001317507.1:p.His338Asp, NP_001317508.1:p.His338Tyr, NP_001317508.1:p.His338Asp, XP_005266487.1:p.His338Tyr, XP_005266487.1:p.His338Asp, XP_005266481.1:p.His306Tyr, XP_005266481.1:p.His306Asp, XP_005266488.1:p.His326Tyr, XP_005266488.1:p.His326Asp, XP_011533419.1:p.His306Tyr, XP_011533419.1:p.His306Asp, XP_006719900.1:p.His306Tyr, XP_006719900.1:p.His306Asp, XP_005266480.1:p.His306Tyr, XP_005266480.1:p.His306Asp, XP_016876116.1:p.His306Tyr, XP_016876116.1:p.His306Asp, XP_047286341.1:p.His338Tyr, XP_047286341.1:p.His338Asp, XP_047286343.1:p.His338Tyr, XP_047286343.1:p.His338Asp, XP_047286342.1:p.His338Tyr, XP_047286342.1:p.His338Asp, XP_047286344.1:p.His338Tyr, XP_047286344.1:p.His338Asp, XP_047286345.1:p.His338Tyr, XP_047286345.1:p.His338Asp

Select item 14875472575.

rs1487547257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:51946399 (GRCh38)
13:52520535 (GRCh37)
Canonical SPDI:: NC_000013.11:51946398:G:A
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.51946399G>A, NC_000013.10:g.52520535G>A, NG_008806.1:g.70096C>T, NM_000053.4:c.2945C>T, NM_000053.3:c.2945C>T, NM_001005918.3:c.2324C>T, NM_001005918.2:c.2324C>T, NM_001330578.2:c.2711C>T, NM_001330578.1:c.2711C>T, NM_001330579.2:c.2693C>T, NM_001330579.1:c.2693C>T, NM_001243182.2:c.2612C>T, NM_001243182.1:c.2612C>T, NM_001406512.1:c.2945C>T, NM_001406516.1:c.2891C>T, NM_001406532.1:c.2693C>T, NM_001406522.1:c.2801C>T, NM_001406518.1:c.2849C>T, NM_001406511.1:c.2945C>T, NM_001406513.1:c.2945C>T, NM_001406528.1:c.2711C>T, NM_001406514.1:c.2912C>T, NM_001406515.1:c.2891C>T, NM_001406521.1:c.2801C>T, NM_001406517.1:c.2849C>T, NM_001406519.1:c.2810C>T, NM_001406520.1:c.2801C>T, NM_001406524.1:c.2768C>T, NM_001406527.1:c.2711C>T, NM_001406523.1:c.2945C>T, NM_001406531.1:c.2693C>T, NM_001406526.1:c.2945C>T, NM_001406530.1:c.2705C>T, NM_001406534.1:c.2657C>T, NM_001406539.1:c.2516C>T, NM_001406543.1:c.2597C>T, NM_001406536.1:c.2615C>T, NM_001406538.1:c.2711C>T, NM_001406541.1:c.2459C>T, NM_001406542.1:c.2459C>T, NM_001406544.1:c.2363C>T, NM_001406545.1:c.2297C>T, NM_001406548.1:c.1655C>T, XM_005266430.5:c.2945C>T, XM_005266424.5:c.2849C>T, XM_005266424.4:c.2849C>T, XM_005266424.3:c.2849C>T, XM_005266424.2:c.2849C>T, XM_005266424.1:c.2849C>T, XM_005266431.5:c.2909C>T, XM_005266431.4:c.2909C>T, XM_005266431.3:c.2909C>T, XM_005266431.2:c.2909C>T, XM_005266431.1:c.2909C>T, XM_011535117.4:c.2849C>T, XM_011535117.3:c.2849C>T, XM_011535117.2:c.2849C>T, XM_011535117.1:c.2849C>T, XM_006719837.4:c.2849C>T, XM_005266423.3:c.2849C>T, XM_005266423.2:c.2849C>T, XM_005266423.1:c.2849C>T, XM_017020627.2:c.2849C>T, XM_017020627.1:c.2849C>T, XM_047430385.1:c.2810C>T, XM_047430387.1:c.2711C>T, XM_047430386.1:c.2945C>T, XM_047430388.1:c.2693C>T, XM_047430389.1:c.2459C>T, XM_047430390.1:c.1613C>T, XM_047430391.1:c.953C>T, XM_047430392.1:c.761C>T, XM_047430393.1:c.761C>T, NP_000044.2:p.Ala982Val, NP_001005918.1:p.Ala775Val, NP_001317507.1:p.Ala904Val, NP_001317508.1:p.Ala898Val, NP_001230111.1:p.Ala871Val, XP_005266487.1:p.Ala982Val, XP_005266481.1:p.Ala950Val, XP_005266488.1:p.Ala970Val, XP_011533419.1:p.Ala950Val, XP_006719900.1:p.Ala950Val, XP_005266480.1:p.Ala950Val, XP_016876116.1:p.Ala950Val, XP_047286341.1:p.Ala937Val, XP_047286343.1:p.Ala904Val, XP_047286342.1:p.Ala982Val, XP_047286344.1:p.Ala898Val, XP_047286345.1:p.Ala820Val, XP_047286346.1:p.Ala538Val, XP_047286347.1:p.Ala318Val, XP_047286348.1:p.Ala254Val, XP_047286349.1:p.Ala254Val

Select item 14868542006.

rs1486854200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:51975047 (GRCh38)
13:52549183 (GRCh37)
Canonical SPDI:: NC_000013.11:51975046:G:A
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000013.11:g.51975047G>A, NC_000013.10:g.52549183G>A, NG_008806.1:g.41448C>T, NM_000053.4:c.173C>T, NM_000053.3:c.173C>T, NM_001005918.3:c.173C>T, NM_001005918.2:c.173C>T, NM_001330578.2:c.173C>T, NM_001330578.1:c.173C>T, NM_001330579.2:c.173C>T, NM_001330579.1:c.173C>T, NM_001243182.2:c.173C>T, NM_001243182.1:c.173C>T, NM_001406512.1:c.173C>T, NM_001406516.1:c.173C>T, NM_001406532.1:c.173C>T, NM_001406522.1:c.173C>T, NM_001406518.1:c.77C>T, NM_001406511.1:c.173C>T, NM_001406513.1:c.173C>T, NM_001406528.1:c.173C>T, NM_001406514.1:c.173C>T, NM_001406515.1:c.173C>T, NM_001406521.1:c.173C>T, NM_001406517.1:c.77C>T, NM_001406519.1:c.173C>T, NM_001406520.1:c.173C>T, NM_001406524.1:c.173C>T, NM_001406527.1:c.173C>T, NM_001406523.1:c.173C>T, NM_001406525.1:c.173C>T, NM_001406531.1:c.173C>T, NM_001406526.1:c.173C>T, NM_001406530.1:c.77C>T, NM_001406537.1:c.173C>T, NM_001406534.1:c.173C>T, NM_001406539.1:c.77C>T, NM_001406543.1:c.77C>T, NM_001406536.1:c.77C>T, NM_001406535.1:c.173C>T, NM_001406538.1:c.173C>T, NM_001406541.1:c.173C>T, NM_001406540.1:c.173C>T, NM_001406542.1:c.173C>T, NM_001406544.1:c.77C>T, NM_001406545.1:c.173C>T, NM_001406546.1:c.173C>T, NM_001406547.1:c.173C>T, NM_001406548.1:c.173C>T, XM_005266430.5:c.173C>T, XM_005266424.5:c.77C>T, XM_005266424.4:c.77C>T, XM_005266424.3:c.77C>T, XM_005266424.2:c.77C>T, XM_005266424.1:c.77C>T, XM_005266431.5:c.137C>T, XM_005266431.4:c.137C>T, XM_005266431.3:c.137C>T, XM_005266431.2:c.137C>T, XM_005266431.1:c.137C>T, XM_011535117.4:c.77C>T, XM_011535117.3:c.77C>T, XM_011535117.2:c.77C>T, XM_011535117.1:c.77C>T, XM_006719837.4:c.77C>T, XM_005266423.3:c.77C>T, XM_005266423.2:c.77C>T, XM_005266423.1:c.77C>T, XM_017020627.2:c.77C>T, XM_017020627.1:c.77C>T, XM_047430385.1:c.173C>T, XM_047430387.1:c.173C>T, XM_047430386.1:c.173C>T, XM_047430388.1:c.173C>T, XM_047430389.1:c.173C>T, NP_000044.2:p.Ala58Val, NP_001005918.1:p.Ala58Val, NP_001317507.1:p.Ala58Val, NP_001317508.1:p.Ala58Val, NP_001230111.1:p.Ala58Val, XP_005266487.1:p.Ala58Val, XP_005266481.1:p.Ala26Val, XP_005266488.1:p.Ala46Val, XP_011533419.1:p.Ala26Val, XP_006719900.1:p.Ala26Val, XP_005266480.1:p.Ala26Val, XP_016876116.1:p.Ala26Val, XP_047286341.1:p.Ala58Val, XP_047286343.1:p.Ala58Val, XP_047286342.1:p.Ala58Val, XP_047286344.1:p.Ala58Val, XP_047286345.1:p.Ala58Val

Select item 14865949067.

rs1486594906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:51939088 (GRCh38)
13:52513224 (GRCh37)
Canonical SPDI:: NC_000013.11:51939087:C:G,NC_000013.11:51939087:C:T
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.51939088C>G, NC_000013.11:g.51939088C>T, NC_000013.10:g.52513224C>G, NC_000013.10:g.52513224C>T, NG_008806.1:g.77407G>C, NG_008806.1:g.77407G>A, NM_000053.4:c.3662G>C, NM_000053.4:c.3662G>A, NM_000053.3:c.3662G>C, NM_000053.3:c.3662G>A, NM_001005918.3:c.3041G>C, NM_001005918.3:c.3041G>A, NM_001005918.2:c.3041G>C, NM_001005918.2:c.3041G>A, NM_001330578.2:c.3428G>C, NM_001330578.2:c.3428G>A, NM_001330578.1:c.3428G>C, NM_001330578.1:c.3428G>A, NM_001330579.2:c.3410G>C, NM_001330579.2:c.3410G>A, NM_001330579.1:c.3410G>C, NM_001330579.1:c.3410G>A, NM_001243182.2:c.3329G>C, NM_001243182.2:c.3329G>A, NM_001243182.1:c.3329G>C, NM_001243182.1:c.3329G>A, NM_001406512.1:c.3662G>C, NM_001406512.1:c.3662G>A, NM_001406516.1:c.3608G>C, NM_001406516.1:c.3608G>A, NM_001406532.1:c.3410G>C, NM_001406532.1:c.3410G>A, NM_001406522.1:c.3518G>C, NM_001406522.1:c.3518G>A, NM_001406518.1:c.3566G>C, NM_001406518.1:c.3566G>A, NM_001406511.1:c.3662G>C, NM_001406511.1:c.3662G>A, NM_001406513.1:c.3656G>C, NM_001406513.1:c.3656G>A, NM_001406528.1:c.3428G>C, NM_001406528.1:c.3428G>A, NM_001406514.1:c.3629G>C, NM_001406514.1:c.3629G>A, NM_001406515.1:c.3608G>C, NM_001406515.1:c.3608G>A, NM_001406521.1:c.3518G>C, NM_001406521.1:c.3518G>A, NM_001406517.1:c.3566G>C, NM_001406517.1:c.3566G>A, NM_001406519.1:c.3527G>C, NM_001406519.1:c.3527G>A, NM_001406520.1:c.3518G>C, NM_001406520.1:c.3518G>A, NM_001406524.1:c.3485G>C, NM_001406524.1:c.3485G>A, NM_001406527.1:c.3428G>C, NM_001406527.1:c.3428G>A, NM_001406523.1:c.3479G>C, NM_001406523.1:c.3479G>A, NM_001406525.1:c.3467G>C, NM_001406525.1:c.3467G>A, NM_001406531.1:c.3410G>C, NM_001406531.1:c.3410G>A, NM_001406526.1:c.3662G>C, NM_001406526.1:c.3662G>A, NM_001406530.1:c.3422G>C, NM_001406530.1:c.3422G>A, NM_001406537.1:c.3323G>C, NM_001406537.1:c.3323G>A, NM_001406534.1:c.3374G>C, NM_001406534.1:c.3374G>A, NM_001406539.1:c.3233G>C, NM_001406539.1:c.3233G>A, NM_001406543.1:c.3170G>C, NM_001406543.1:c.3170G>A, NM_001406536.1:c.3332G>C, NM_001406536.1:c.3332G>A, NM_001406535.1:c.3332G>C, NM_001406535.1:c.3332G>A, NM_001406538.1:c.3284G>C, NM_001406538.1:c.3284G>A, NM_001406541.1:c.3176G>C, NM_001406541.1:c.3176G>A, NM_001406540.1:c.3215G>C, NM_001406540.1:c.3215G>A, NM_001406542.1:c.3176G>C, NM_001406542.1:c.3176G>A, NM_001406544.1:c.3080G>C, NM_001406544.1:c.3080G>A, NM_001406545.1:c.3014G>C, NM_001406545.1:c.3014G>A, NM_001406546.1:c.2981G>C, NM_001406546.1:c.2981G>A, NM_001406547.1:c.2819G>C, NM_001406547.1:c.2819G>A, NM_001406548.1:c.2372G>C, NM_001406548.1:c.2372G>A, XM_005266430.5:c.3662G>C, XM_005266430.5:c.3662G>A, XM_005266424.5:c.3566G>C, XM_005266424.5:c.3566G>A, XM_005266424.4:c.3566G>C, XM_005266424.4:c.3566G>A, XM_005266424.3:c.3566G>C, XM_005266424.3:c.3566G>A, XM_005266424.2:c.3566G>C, XM_005266424.2:c.3566G>A, XM_005266424.1:c.3566G>C, XM_005266424.1:c.3566G>A, XM_005266431.5:c.3626G>C, XM_005266431.5:c.3626G>A, XM_005266431.4:c.3626G>C, XM_005266431.4:c.3626G>A, XM_005266431.3:c.3626G>C, XM_005266431.3:c.3626G>A, XM_005266431.2:c.3626G>C, XM_005266431.2:c.3626G>A, XM_005266431.1:c.3626G>C, XM_005266431.1:c.3626G>A, XM_011535117.4:c.3566G>C, XM_011535117.4:c.3566G>A, XM_011535117.3:c.3566G>C, XM_011535117.3:c.3566G>A, XM_011535117.2:c.3566G>C, XM_011535117.2:c.3566G>A, XM_011535117.1:c.3566G>C, XM_011535117.1:c.3566G>A, XM_006719837.4:c.3566G>C, XM_006719837.4:c.3566G>A, XM_005266423.3:c.3566G>C, XM_005266423.3:c.3566G>A, XM_005266423.2:c.3566G>C, XM_005266423.2:c.3566G>A, XM_005266423.1:c.3566G>C, XM_005266423.1:c.3566G>A, XM_017020627.2:c.3566G>C, XM_017020627.2:c.3566G>A, XM_017020627.1:c.3566G>C, XM_017020627.1:c.3566G>A, XM_047430385.1:c.3527G>C, XM_047430385.1:c.3527G>A, XM_047430387.1:c.3428G>C, XM_047430387.1:c.3428G>A, XM_047430386.1:c.3479G>C, XM_047430386.1:c.3479G>A, XM_047430388.1:c.3410G>C, XM_047430388.1:c.3410G>A, XM_047430389.1:c.3176G>C, XM_047430389.1:c.3176G>A, XM_047430390.1:c.2330G>C, XM_047430390.1:c.2330G>A, XM_047430391.1:c.1670G>C, XM_047430391.1:c.1670G>A, XM_047430392.1:c.1478G>C, XM_047430392.1:c.1478G>A, XM_047430393.1:c.1295G>C, XM_047430393.1:c.1295G>A, NP_000044.2:p.Gly1221Ala, NP_000044.2:p.Gly1221Glu, NP_001005918.1:p.Gly1014Ala, NP_001005918.1:p.Gly1014Glu, NP_001317507.1:p.Gly1143Ala, NP_001317507.1:p.Gly1143Glu, NP_001317508.1:p.Gly1137Ala, NP_001317508.1:p.Gly1137Glu, NP_001230111.1:p.Gly1110Ala, NP_001230111.1:p.Gly1110Glu, XP_005266487.1:p.Gly1221Ala, XP_005266487.1:p.Gly1221Glu, XP_005266481.1:p.Gly1189Ala, XP_005266481.1:p.Gly1189Glu, XP_005266488.1:p.Gly1209Ala, XP_005266488.1:p.Gly1209Glu, XP_011533419.1:p.Gly1189Ala, XP_011533419.1:p.Gly1189Glu, XP_006719900.1:p.Gly1189Ala, XP_006719900.1:p.Gly1189Glu, XP_005266480.1:p.Gly1189Ala, XP_005266480.1:p.Gly1189Glu, XP_016876116.1:p.Gly1189Ala, XP_016876116.1:p.Gly1189Glu, XP_047286341.1:p.Gly1176Ala, XP_047286341.1:p.Gly1176Glu, XP_047286343.1:p.Gly1143Ala, XP_047286343.1:p.Gly1143Glu, XP_047286342.1:p.Gly1160Ala, XP_047286342.1:p.Gly1160Glu, XP_047286344.1:p.Gly1137Ala, XP_047286344.1:p.Gly1137Glu, XP_047286345.1:p.Gly1059Ala, XP_047286345.1:p.Gly1059Glu, XP_047286346.1:p.Gly777Ala, XP_047286346.1:p.Gly777Glu, XP_047286347.1:p.Gly557Ala, XP_047286347.1:p.Gly557Glu, XP_047286348.1:p.Gly493Ala, XP_047286348.1:p.Gly493Glu, XP_047286349.1:p.Gly432Ala, XP_047286349.1:p.Gly432Glu

Select item 14857804428.

rs1485780442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:51964942 (GRCh38)
13:52539078 (GRCh37)
Canonical SPDI:: NC_000013.11:51964941:G:T
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.51964942G>T, NC_000013.10:g.52539078G>T, NG_008806.1:g.51553C>A, NM_000053.4:c.1799C>A, NM_000053.3:c.1799C>A, NM_001005918.3:c.1799C>A, NM_001005918.2:c.1799C>A, NM_001330578.2:c.1799C>A, NM_001330578.1:c.1799C>A, NM_001330579.2:c.1799C>A, NM_001330579.1:c.1799C>A, NM_001243182.2:c.1466C>A, NM_001243182.1:c.1466C>A, NM_001406512.1:c.1799C>A, NM_001406516.1:c.1799C>A, NM_001406532.1:c.1799C>A, NM_001406522.1:c.1799C>A, NM_001406518.1:c.1703C>A, NM_001406511.1:c.1799C>A, NM_001406513.1:c.1799C>A, NM_001406528.1:c.1799C>A, NM_001406514.1:c.1766C>A, NM_001406515.1:c.1799C>A, NM_001406521.1:c.1799C>A, NM_001406517.1:c.1703C>A, NM_001406519.1:c.1799C>A, NM_001406520.1:c.1799C>A, NM_001406524.1:c.1766C>A, NM_001406527.1:c.1799C>A, NM_001406523.1:c.1799C>A, NM_001406525.1:c.1799C>A, NM_001406531.1:c.1799C>A, NM_001406526.1:c.1799C>A, NM_001406530.1:c.1703C>A, NM_001406537.1:c.1799C>A, NM_001406534.1:c.1799C>A, NM_001406539.1:c.1370C>A, NM_001406543.1:c.1703C>A, NM_001406536.1:c.1703C>A, NM_001406535.1:c.1799C>A, NM_001406538.1:c.1799C>A, NM_001406541.1:c.1799C>A, NM_001406540.1:c.1799C>A, NM_001406542.1:c.1799C>A, NM_001406544.1:c.1703C>A, NM_001406546.1:c.1799C>A, XM_005266430.5:c.1799C>A, XM_005266424.5:c.1703C>A, XM_005266424.4:c.1703C>A, XM_005266424.3:c.1703C>A, XM_005266424.2:c.1703C>A, XM_005266424.1:c.1703C>A, XM_005266431.5:c.1763C>A, XM_005266431.4:c.1763C>A, XM_005266431.3:c.1763C>A, XM_005266431.2:c.1763C>A, XM_005266431.1:c.1763C>A, XM_011535117.4:c.1703C>A, XM_011535117.3:c.1703C>A, XM_011535117.2:c.1703C>A, XM_011535117.1:c.1703C>A, XM_006719837.4:c.1703C>A, XM_005266423.3:c.1703C>A, XM_005266423.2:c.1703C>A, XM_005266423.1:c.1703C>A, XM_017020627.2:c.1703C>A, XM_017020627.1:c.1703C>A, XM_047430385.1:c.1799C>A, XM_047430387.1:c.1799C>A, XM_047430386.1:c.1799C>A, XM_047430388.1:c.1799C>A, XM_047430389.1:c.1799C>A, XM_047430390.1:c.467C>A, NP_000044.2:p.Ala600Asp, NP_001005918.1:p.Ala600Asp, NP_001317507.1:p.Ala600Asp, NP_001317508.1:p.Ala600Asp, NP_001230111.1:p.Ala489Asp, XP_005266487.1:p.Ala600Asp, XP_005266481.1:p.Ala568Asp, XP_005266488.1:p.Ala588Asp, XP_011533419.1:p.Ala568Asp, XP_006719900.1:p.Ala568Asp, XP_005266480.1:p.Ala568Asp, XP_016876116.1:p.Ala568Asp, XP_047286341.1:p.Ala600Asp, XP_047286343.1:p.Ala600Asp, XP_047286342.1:p.Ala600Asp, XP_047286344.1:p.Ala600Asp, XP_047286345.1:p.Ala600Asp, XP_047286346.1:p.Ala156Asp

Select item 14856470039.

rs1485647003 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:51941210 (GRCh38)
13:52515346 (GRCh37)
Canonical SPDI:: NC_000013.11:51941209:T:A
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.51941210T>A, NC_000013.10:g.52515346T>A, NG_008806.1:g.75285A>T, NM_000053.4:c.3427A>T, NM_000053.3:c.3427A>T, NM_001005918.3:c.2806A>T, NM_001005918.2:c.2806A>T, NM_001330578.2:c.3193A>T, NM_001330578.1:c.3193A>T, NM_001330579.2:c.3175A>T, NM_001330579.1:c.3175A>T, NM_001243182.2:c.3094A>T, NM_001243182.1:c.3094A>T, NM_001406512.1:c.3427A>T, NM_001406516.1:c.3373A>T, NM_001406532.1:c.3175A>T, NM_001406522.1:c.3283A>T, NM_001406518.1:c.3331A>T, NM_001406511.1:c.3427A>T, NM_001406513.1:c.3421A>T, NM_001406528.1:c.3193A>T, NM_001406514.1:c.3394A>T, NM_001406515.1:c.3373A>T, NM_001406521.1:c.3283A>T, NM_001406517.1:c.3331A>T, NM_001406519.1:c.3292A>T, NM_001406520.1:c.3283A>T, NM_001406524.1:c.3250A>T, NM_001406527.1:c.3193A>T, NM_001406523.1:c.3244A>T, NM_001406525.1:c.3232A>T, NM_001406531.1:c.3175A>T, NM_001406526.1:c.3427A>T, NM_001406530.1:c.3187A>T, NM_001406537.1:c.3088A>T, NM_001406534.1:c.3139A>T, NM_001406539.1:c.2998A>T, NM_001406536.1:c.3097A>T, NM_001406535.1:c.3097A>T, NM_001406541.1:c.2941A>T, NM_001406540.1:c.2980A>T, NM_001406542.1:c.2941A>T, NM_001406544.1:c.2845A>T, NM_001406545.1:c.2779A>T, NM_001406546.1:c.2746A>T, NM_001406547.1:c.2584A>T, NM_001406548.1:c.2137A>T, XM_005266430.5:c.3427A>T, XM_005266424.5:c.3331A>T, XM_005266424.4:c.3331A>T, XM_005266424.3:c.3331A>T, XM_005266424.2:c.3331A>T, XM_005266424.1:c.3331A>T, XM_005266431.5:c.3391A>T, XM_005266431.4:c.3391A>T, XM_005266431.3:c.3391A>T, XM_005266431.2:c.3391A>T, XM_005266431.1:c.3391A>T, XM_011535117.4:c.3331A>T, XM_011535117.3:c.3331A>T, XM_011535117.2:c.3331A>T, XM_011535117.1:c.3331A>T, XM_006719837.4:c.3331A>T, XM_005266423.3:c.3331A>T, XM_005266423.2:c.3331A>T, XM_005266423.1:c.3331A>T, XM_017020627.2:c.3331A>T, XM_017020627.1:c.3331A>T, XM_047430385.1:c.3292A>T, XM_047430387.1:c.3193A>T, XM_047430386.1:c.3244A>T, XM_047430388.1:c.3175A>T, XM_047430389.1:c.2941A>T, XM_047430390.1:c.2095A>T, XM_047430391.1:c.1435A>T, XM_047430392.1:c.1243A>T, XM_047430393.1:c.1060A>T, NP_000044.2:p.Thr1143Ser, NP_001005918.1:p.Thr936Ser, NP_001317507.1:p.Thr1065Ser, NP_001317508.1:p.Thr1059Ser, NP_001230111.1:p.Thr1032Ser, XP_005266487.1:p.Thr1143Ser, XP_005266481.1:p.Thr1111Ser, XP_005266488.1:p.Thr1131Ser, XP_011533419.1:p.Thr1111Ser, XP_006719900.1:p.Thr1111Ser, XP_005266480.1:p.Thr1111Ser, XP_016876116.1:p.Thr1111Ser, XP_047286341.1:p.Thr1098Ser, XP_047286343.1:p.Thr1065Ser, XP_047286342.1:p.Thr1082Ser, XP_047286344.1:p.Thr1059Ser, XP_047286345.1:p.Thr981Ser, XP_047286346.1:p.Thr699Ser, XP_047286347.1:p.Thr479Ser, XP_047286348.1:p.Thr415Ser, XP_047286349.1:p.Thr354Ser

Select item 148455286910.

rs1484552869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:51934864 (GRCh38)
13:52509000 (GRCh37)
Canonical SPDI:: NC_000013.11:51934863:C:T
Gene:: ATP7B (Varview), TMEM272 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.51934864C>T, NC_000013.10:g.52509000C>T, NG_008806.1:g.81631G>A, NM_000053.4:c.4290G>A, NM_000053.3:c.4290G>A, NM_001005918.3:c.3669G>A, NM_001005918.2:c.3669G>A, NM_001330578.2:c.4056G>A, NM_001330578.1:c.4056G>A, NM_001330579.2:c.4038G>A, NM_001330579.1:c.4038G>A, NM_001243182.2:c.3957G>A, NM_001243182.1:c.3957G>A, NM_001406512.1:c.4290G>A, NM_001406516.1:c.4236G>A, NM_001406532.1:c.4038G>A, NM_001406522.1:c.4146G>A, NM_001406518.1:c.4194G>A, NM_001406511.1:c.4290G>A, NM_001406513.1:c.4284G>A, NM_001406528.1:c.4056G>A, NM_001406514.1:c.4257G>A, NM_001406515.1:c.4236G>A, NM_001406521.1:c.4146G>A, NM_001406517.1:c.4194G>A, NM_001406519.1:c.4155G>A, NM_001406520.1:c.4146G>A, NM_001406524.1:c.4113G>A, NM_001406527.1:c.4056G>A, NM_001406523.1:c.4107G>A, NM_001406525.1:c.4095G>A, NM_001406531.1:c.4038G>A, NM_001406526.1:c.4086G>A, NM_001406530.1:c.4050G>A, NM_001406537.1:c.3951G>A, NM_001406534.1:c.4002G>A, NM_001406539.1:c.3861G>A, NM_001406543.1:c.3798G>A, NM_001406536.1:c.3960G>A, NM_001406535.1:c.3960G>A, NM_001406538.1:c.3912G>A, NM_001406541.1:c.3804G>A, NM_001406540.1:c.3843G>A, NM_001406542.1:c.3804G>A, NM_001406544.1:c.3708G>A, NM_001406545.1:c.3642G>A, NM_001406546.1:c.3609G>A, NM_001406547.1:c.3447G>A, NM_001406548.1:c.3000G>A, XM_005266430.5:c.4290G>A, XM_005266424.5:c.4194G>A, XM_005266424.4:c.4194G>A, XM_005266424.3:c.4194G>A, XM_005266424.2:c.4194G>A, XM_005266424.1:c.4194G>A, XM_005266431.5:c.4254G>A, XM_005266431.4:c.4254G>A, XM_005266431.3:c.4254G>A, XM_005266431.2:c.4254G>A, XM_005266431.1:c.4254G>A, XM_011535117.4:c.4194G>A, XM_011535117.3:c.4194G>A, XM_011535117.2:c.4194G>A, XM_011535117.1:c.4194G>A, XM_006719837.4:c.4194G>A, XM_005266423.3:c.4194G>A, XM_005266423.2:c.4194G>A, XM_005266423.1:c.4194G>A, XM_017020627.2:c.4194G>A, XM_017020627.1:c.4194G>A, XM_047430385.1:c.4155G>A, XM_047430387.1:c.4056G>A, XM_047430386.1:c.4107G>A, XM_047430388.1:c.4038G>A, XM_047430389.1:c.3804G>A, XM_047430390.1:c.2958G>A, XM_047430391.1:c.2298G>A, XM_047430392.1:c.2106G>A, XM_047430393.1:c.1923G>A

Select item 148361645411.

rs1483616454 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 13:51975097 (GRCh38)
13:52549233 (GRCh37)
Canonical SPDI:: NC_000013.11:51975096:A:C,NC_000013.11:51975096:A:G
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.51975097A>C, NC_000013.11:g.51975097A>G, NC_000013.10:g.52549233A>C, NC_000013.10:g.52549233A>G, NG_008806.1:g.41398T>G, NG_008806.1:g.41398T>C, NM_000053.4:c.123T>G, NM_000053.4:c.123T>C, NM_000053.3:c.123T>G, NM_000053.3:c.123T>C, NM_001005918.3:c.123T>G, NM_001005918.3:c.123T>C, NM_001005918.2:c.123T>G, NM_001005918.2:c.123T>C, NM_001330578.2:c.123T>G, NM_001330578.2:c.123T>C, NM_001330578.1:c.123T>G, NM_001330578.1:c.123T>C, NM_001330579.2:c.123T>G, NM_001330579.2:c.123T>C, NM_001330579.1:c.123T>G, NM_001330579.1:c.123T>C, NM_001243182.2:c.123T>G, NM_001243182.2:c.123T>C, NM_001243182.1:c.123T>G, NM_001243182.1:c.123T>C, NM_001406512.1:c.123T>G, NM_001406512.1:c.123T>C, NM_001406516.1:c.123T>G, NM_001406516.1:c.123T>C, NM_001406532.1:c.123T>G, NM_001406532.1:c.123T>C, NM_001406522.1:c.123T>G, NM_001406522.1:c.123T>C, NM_001406518.1:c.27T>G, NM_001406518.1:c.27T>C, NM_001406511.1:c.123T>G, NM_001406511.1:c.123T>C, NM_001406513.1:c.123T>G, NM_001406513.1:c.123T>C, NM_001406528.1:c.123T>G, NM_001406528.1:c.123T>C, NM_001406514.1:c.123T>G, NM_001406514.1:c.123T>C, NM_001406515.1:c.123T>G, NM_001406515.1:c.123T>C, NM_001406521.1:c.123T>G, NM_001406521.1:c.123T>C, NM_001406517.1:c.27T>G, NM_001406517.1:c.27T>C, NM_001406519.1:c.123T>G, NM_001406519.1:c.123T>C, NM_001406520.1:c.123T>G, NM_001406520.1:c.123T>C, NM_001406524.1:c.123T>G, NM_001406524.1:c.123T>C, NM_001406527.1:c.123T>G, NM_001406527.1:c.123T>C, NM_001406523.1:c.123T>G, NM_001406523.1:c.123T>C, NM_001406525.1:c.123T>G, NM_001406525.1:c.123T>C, NM_001406531.1:c.123T>G, NM_001406531.1:c.123T>C, NM_001406526.1:c.123T>G, NM_001406526.1:c.123T>C, NM_001406530.1:c.27T>G, NM_001406530.1:c.27T>C, NM_001406537.1:c.123T>G, NM_001406537.1:c.123T>C, NM_001406534.1:c.123T>G, NM_001406534.1:c.123T>C, NM_001406539.1:c.27T>G, NM_001406539.1:c.27T>C, NM_001406543.1:c.27T>G, NM_001406543.1:c.27T>C, NM_001406536.1:c.27T>G, NM_001406536.1:c.27T>C, NM_001406535.1:c.123T>G, NM_001406535.1:c.123T>C, NM_001406538.1:c.123T>G, NM_001406538.1:c.123T>C, NM_001406541.1:c.123T>G, NM_001406541.1:c.123T>C, NM_001406540.1:c.123T>G, NM_001406540.1:c.123T>C, NM_001406542.1:c.123T>G, NM_001406542.1:c.123T>C, NM_001406544.1:c.27T>G, NM_001406544.1:c.27T>C, NM_001406545.1:c.123T>G, NM_001406545.1:c.123T>C, NM_001406546.1:c.123T>G, NM_001406546.1:c.123T>C, NM_001406547.1:c.123T>G, NM_001406547.1:c.123T>C, NM_001406548.1:c.123T>G, NM_001406548.1:c.123T>C, XM_005266430.5:c.123T>G, XM_005266430.5:c.123T>C, XM_005266424.5:c.27T>G, XM_005266424.5:c.27T>C, XM_005266424.4:c.27T>G, XM_005266424.4:c.27T>C, XM_005266424.3:c.27T>G, XM_005266424.3:c.27T>C, XM_005266424.2:c.27T>G, XM_005266424.2:c.27T>C, XM_005266424.1:c.27T>G, XM_005266424.1:c.27T>C, XM_005266431.5:c.87T>G, XM_005266431.5:c.87T>C, XM_005266431.4:c.87T>G, XM_005266431.4:c.87T>C, XM_005266431.3:c.87T>G, XM_005266431.3:c.87T>C, XM_005266431.2:c.87T>G, XM_005266431.2:c.87T>C, XM_005266431.1:c.87T>G, XM_005266431.1:c.87T>C, XM_011535117.4:c.27T>G, XM_011535117.4:c.27T>C, XM_011535117.3:c.27T>G, XM_011535117.3:c.27T>C, XM_011535117.2:c.27T>G, XM_011535117.2:c.27T>C, XM_011535117.1:c.27T>G, XM_011535117.1:c.27T>C, XM_006719837.4:c.27T>G, XM_006719837.4:c.27T>C, XM_005266423.3:c.27T>G, XM_005266423.3:c.27T>C, XM_005266423.2:c.27T>G, XM_005266423.2:c.27T>C, XM_005266423.1:c.27T>G, XM_005266423.1:c.27T>C, XM_017020627.2:c.27T>G, XM_017020627.2:c.27T>C, XM_017020627.1:c.27T>G, XM_017020627.1:c.27T>C, XM_047430385.1:c.123T>G, XM_047430385.1:c.123T>C, XM_047430387.1:c.123T>G, XM_047430387.1:c.123T>C, XM_047430386.1:c.123T>G, XM_047430386.1:c.123T>C, XM_047430388.1:c.123T>G, XM_047430388.1:c.123T>C, XM_047430389.1:c.123T>G, XM_047430389.1:c.123T>C, NP_000044.2:p.Asn41Lys, NP_001005918.1:p.Asn41Lys, NP_001317507.1:p.Asn41Lys, NP_001317508.1:p.Asn41Lys, NP_001230111.1:p.Asn41Lys, XP_005266487.1:p.Asn41Lys, XP_005266481.1:p.Asn9Lys, XP_005266488.1:p.Asn29Lys, XP_011533419.1:p.Asn9Lys, XP_006719900.1:p.Asn9Lys, XP_005266480.1:p.Asn9Lys, XP_016876116.1:p.Asn9Lys, XP_047286341.1:p.Asn41Lys, XP_047286343.1:p.Asn41Lys, XP_047286342.1:p.Asn41Lys, XP_047286344.1:p.Asn41Lys, XP_047286345.1:p.Asn41Lys

Select item 148277152412.

rs1482771524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:51968568 (GRCh38)
13:52542704 (GRCh37)
Canonical SPDI:: NC_000013.11:51968567:G:C
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000013.11:g.51968568G>C, NC_000013.10:g.52542704G>C, NG_008806.1:g.47927C>G, NM_000053.4:c.1583C>G, NM_000053.3:c.1583C>G, NM_001005918.3:c.1583C>G, NM_001005918.2:c.1583C>G, NM_001330578.2:c.1583C>G, NM_001330578.1:c.1583C>G, NM_001330579.2:c.1583C>G, NM_001330579.1:c.1583C>G, NM_001243182.2:c.1250C>G, NM_001243182.1:c.1250C>G, NM_001406512.1:c.1583C>G, NM_001406516.1:c.1583C>G, NM_001406532.1:c.1583C>G, NM_001406522.1:c.1583C>G, NM_001406518.1:c.1487C>G, NM_001406511.1:c.1583C>G, NM_001406513.1:c.1583C>G, NM_001406528.1:c.1583C>G, NM_001406514.1:c.1550C>G, NM_001406515.1:c.1583C>G, NM_001406521.1:c.1583C>G, NM_001406517.1:c.1487C>G, NM_001406519.1:c.1583C>G, NM_001406520.1:c.1583C>G, NM_001406524.1:c.1550C>G, NM_001406527.1:c.1583C>G, NM_001406523.1:c.1583C>G, NM_001406525.1:c.1583C>G, NM_001406531.1:c.1583C>G, NM_001406526.1:c.1583C>G, NM_001406530.1:c.1487C>G, NM_001406537.1:c.1583C>G, NM_001406534.1:c.1583C>G, NM_001406539.1:c.1154C>G, NM_001406543.1:c.1487C>G, NM_001406536.1:c.1487C>G, NM_001406535.1:c.1583C>G, NM_001406538.1:c.1583C>G, NM_001406541.1:c.1583C>G, NM_001406540.1:c.1583C>G, NM_001406542.1:c.1583C>G, NM_001406544.1:c.1487C>G, NM_001406545.1:c.1583C>G, NM_001406546.1:c.1583C>G, NM_001406547.1:c.1583C>G, XM_005266430.5:c.1583C>G, XM_005266424.5:c.1487C>G, XM_005266424.4:c.1487C>G, XM_005266424.3:c.1487C>G, XM_005266424.2:c.1487C>G, XM_005266424.1:c.1487C>G, XM_005266431.5:c.1547C>G, XM_005266431.4:c.1547C>G, XM_005266431.3:c.1547C>G, XM_005266431.2:c.1547C>G, XM_005266431.1:c.1547C>G, XM_011535117.4:c.1487C>G, XM_011535117.3:c.1487C>G, XM_011535117.2:c.1487C>G, XM_011535117.1:c.1487C>G, XM_006719837.4:c.1487C>G, XM_005266423.3:c.1487C>G, XM_005266423.2:c.1487C>G, XM_005266423.1:c.1487C>G, XM_017020627.2:c.1487C>G, XM_017020627.1:c.1487C>G, XM_047430385.1:c.1583C>G, XM_047430387.1:c.1583C>G, XM_047430386.1:c.1583C>G, XM_047430388.1:c.1583C>G, XM_047430389.1:c.1583C>G, XM_047430390.1:c.251C>G, NP_000044.2:p.Ala528Gly, NP_001005918.1:p.Ala528Gly, NP_001317507.1:p.Ala528Gly, NP_001317508.1:p.Ala528Gly, NP_001230111.1:p.Ala417Gly, XP_005266487.1:p.Ala528Gly, XP_005266481.1:p.Ala496Gly, XP_005266488.1:p.Ala516Gly, XP_011533419.1:p.Ala496Gly, XP_006719900.1:p.Ala496Gly, XP_005266480.1:p.Ala496Gly, XP_016876116.1:p.Ala496Gly, XP_047286341.1:p.Ala528Gly, XP_047286343.1:p.Ala528Gly, XP_047286342.1:p.Ala528Gly, XP_047286344.1:p.Ala528Gly, XP_047286345.1:p.Ala528Gly, XP_047286346.1:p.Ala84Gly

Select item 148247358513.

rs1482473585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:51958453 (GRCh38)
13:52532589 (GRCh37)
Canonical SPDI:: NC_000013.11:51958452:C:T
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.51958453C>T, NC_000013.10:g.52532589C>T, NG_008806.1:g.58042G>A, NM_000053.4:c.2213G>A, NM_000053.3:c.2213G>A, NM_001330579.2:c.1961G>A, NM_001330579.1:c.1961G>A, NM_001243182.2:c.1880G>A, NM_001243182.1:c.1880G>A, NM_001406512.1:c.2213G>A, NM_001406516.1:c.2213G>A, NM_001406532.1:c.1961G>A, NM_001406518.1:c.2117G>A, NM_001406511.1:c.2213G>A, NM_001406513.1:c.2213G>A, NM_001406514.1:c.2180G>A, NM_001406515.1:c.2213G>A, NM_001406517.1:c.2117G>A, NM_001406519.1:c.2213G>A, NM_001406523.1:c.2213G>A, NM_001406525.1:c.2213G>A, NM_001406531.1:c.1961G>A, NM_001406526.1:c.2213G>A, NM_001406539.1:c.1784G>A, NM_001406543.1:c.1865G>A, NM_001406535.1:c.2213G>A, NM_001406540.1:c.1961G>A, XM_005266430.5:c.2213G>A, XM_005266424.5:c.2117G>A, XM_005266424.4:c.2117G>A, XM_005266424.3:c.2117G>A, XM_005266424.2:c.2117G>A, XM_005266424.1:c.2117G>A, XM_005266431.5:c.2177G>A, XM_005266431.4:c.2177G>A, XM_005266431.3:c.2177G>A, XM_005266431.2:c.2177G>A, XM_005266431.1:c.2177G>A, XM_011535117.4:c.2117G>A, XM_011535117.3:c.2117G>A, XM_011535117.2:c.2117G>A, XM_011535117.1:c.2117G>A, XM_006719837.4:c.2117G>A, XM_005266423.3:c.2117G>A, XM_005266423.2:c.2117G>A, XM_005266423.1:c.2117G>A, XM_017020627.2:c.2117G>A, XM_017020627.1:c.2117G>A, XM_047430385.1:c.2213G>A, XM_047430386.1:c.2213G>A, XM_047430388.1:c.1961G>A, XM_047430390.1:c.881G>A, XM_047430391.1:c.221G>A, XM_047430392.1:c.29G>A, XM_047430393.1:c.29G>A, NP_000044.2:p.Ser738Asn, NP_001317508.1:p.Ser654Asn, NP_001230111.1:p.Ser627Asn, XP_005266487.1:p.Ser738Asn, XP_005266481.1:p.Ser706Asn, XP_005266488.1:p.Ser726Asn, XP_011533419.1:p.Ser706Asn, XP_006719900.1:p.Ser706Asn, XP_005266480.1:p.Ser706Asn, XP_016876116.1:p.Ser706Asn, XP_047286341.1:p.Ser738Asn, XP_047286342.1:p.Ser738Asn, XP_047286344.1:p.Ser654Asn, XP_047286346.1:p.Ser294Asn, XP_047286347.1:p.Ser74Asn, XP_047286348.1:p.Ser10Asn, XP_047286349.1:p.Ser10Asn

Select item 148207795014.

rs1482077950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:51974128 (GRCh38)
13:52548264 (GRCh37)
Canonical SPDI:: NC_000013.11:51974127:G:C
Gene:: ATP7B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.51974128G>C, NC_000013.10:g.52548264G>C, NG_008806.1:g.42367C>G, NM_000053.4:c.1092C>G, NM_000053.3:c.1092C>G, NM_001005918.3:c.1092C>G, NM_001005918.2:c.1092C>G, NM_001330578.2:c.1092C>G, NM_001330578.1:c.1092C>G, NM_001330579.2:c.1092C>G, NM_001330579.1:c.1092C>G, NM_001406512.1:c.1092C>G, NM_001406516.1:c.1092C>G, NM_001406532.1:c.1092C>G, NM_001406522.1:c.1092C>G, NM_001406518.1:c.996C>G, NM_001406511.1:c.1092C>G, NM_001406513.1:c.1092C>G, NM_001406528.1:c.1092C>G, NM_001406514.1:c.1092C>G, NM_001406515.1:c.1092C>G, NM_001406521.1:c.1092C>G, NM_001406517.1:c.996C>G, NM_001406519.1:c.1092C>G, NM_001406520.1:c.1092C>G, NM_001406524.1:c.1092C>G, NM_001406527.1:c.1092C>G, NM_001406523.1:c.1092C>G, NM_001406525.1:c.1092C>G, NM_001406531.1:c.1092C>G, NM_001406526.1:c.1092C>G, NM_001406530.1:c.996C>G, NM_001406537.1:c.1092C>G, NM_001406534.1:c.1092C>G, NM_001406543.1:c.996C>G, NM_001406536.1:c.996C>G, NM_001406535.1:c.1092C>G, NM_001406538.1:c.1092C>G, NM_001406541.1:c.1092C>G, NM_001406540.1:c.1092C>G, NM_001406542.1:c.1092C>G, NM_001406544.1:c.996C>G, NM_001406545.1:c.1092C>G, NM_001406546.1:c.1092C>G, NM_001406547.1:c.1092C>G, NM_001406548.1:c.1092C>G, XM_005266430.5:c.1092C>G, XM_005266424.5:c.996C>G, XM_005266424.4:c.996C>G, XM_005266424.3:c.996C>G, XM_005266424.2:c.996C>G, XM_005266424.1:c.996C>G, XM_005266431.5:c.1056C>G, XM_005266431.4:c.1056C>G, XM_005266431.3:c.1056C>G, XM_005266431.2:c.1056C>G, XM_005266431.1:c.1056C>G, XM_011535117.4:c.996C>G, XM_011535117.3:c.996C>G, XM_011535117.2:c.996C>G, XM_011535117.1:c.996C>G, XM_006719837.4:c.996C>G, XM_005266423.3:c.996C>G, XM_005266423.2:c.996C>G, XM_005266423.1:c.996C>G, XM_017020627.2:c.996C>G, XM_017020627.1:c.996C>G, XM_047430385.1:c.1092C>G, XM_047430387.1:c.1092C>G, XM_047430386.1:c.1092C>G, XM_047430388.1:c.1092C>G, XM_047430389.1:c.1092C>G

Select item 148148774515.

rs1481487745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:51974399 (GRCh38)
13:52548535 (GRCh37)
Canonical SPDI:: NC_000013.11:51974398:T:C
Gene:: ATP7B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.51974399T>C, NC_000013.10:g.52548535T>C, NG_008806.1:g.42096A>G, NM_000053.4:c.821A>G, NM_000053.3:c.821A>G, NM_001005918.3:c.821A>G, NM_001005918.2:c.821A>G, NM_001330578.2:c.821A>G, NM_001330578.1:c.821A>G, NM_001330579.2:c.821A>G, NM_001330579.1:c.821A>G, NM_001406512.1:c.821A>G, NM_001406516.1:c.821A>G, NM_001406532.1:c.821A>G, NM_001406522.1:c.821A>G, NM_001406518.1:c.725A>G, NM_001406511.1:c.821A>G, NM_001406513.1:c.821A>G, NM_001406528.1:c.821A>G, NM_001406514.1:c.821A>G, NM_001406515.1:c.821A>G, NM_001406521.1:c.821A>G, NM_001406517.1:c.725A>G, NM_001406519.1:c.821A>G, NM_001406520.1:c.821A>G, NM_001406524.1:c.821A>G, NM_001406527.1:c.821A>G, NM_001406523.1:c.821A>G, NM_001406525.1:c.821A>G, NM_001406531.1:c.821A>G, NM_001406526.1:c.821A>G, NM_001406530.1:c.725A>G, NM_001406537.1:c.821A>G, NM_001406534.1:c.821A>G, NM_001406543.1:c.725A>G, NM_001406536.1:c.725A>G, NM_001406535.1:c.821A>G, NM_001406538.1:c.821A>G, NM_001406541.1:c.821A>G, NM_001406540.1:c.821A>G, NM_001406542.1:c.821A>G, NM_001406544.1:c.725A>G, NM_001406545.1:c.821A>G, NM_001406546.1:c.821A>G, NM_001406547.1:c.821A>G, NM_001406548.1:c.821A>G, XM_005266430.5:c.821A>G, XM_005266424.5:c.725A>G, XM_005266424.4:c.725A>G, XM_005266424.3:c.725A>G, XM_005266424.2:c.725A>G, XM_005266424.1:c.725A>G, XM_005266431.5:c.785A>G, XM_005266431.4:c.785A>G, XM_005266431.3:c.785A>G, XM_005266431.2:c.785A>G, XM_005266431.1:c.785A>G, XM_011535117.4:c.725A>G, XM_011535117.3:c.725A>G, XM_011535117.2:c.725A>G, XM_011535117.1:c.725A>G, XM_006719837.4:c.725A>G, XM_005266423.3:c.725A>G, XM_005266423.2:c.725A>G, XM_005266423.1:c.725A>G, XM_017020627.2:c.725A>G, XM_017020627.1:c.725A>G, XM_047430385.1:c.821A>G, XM_047430387.1:c.821A>G, XM_047430386.1:c.821A>G, XM_047430388.1:c.821A>G, XM_047430389.1:c.821A>G, NP_000044.2:p.Asn274Ser, NP_001005918.1:p.Asn274Ser, NP_001317507.1:p.Asn274Ser, NP_001317508.1:p.Asn274Ser, XP_005266487.1:p.Asn274Ser, XP_005266481.1:p.Asn242Ser, XP_005266488.1:p.Asn262Ser, XP_011533419.1:p.Asn242Ser, XP_006719900.1:p.Asn242Ser, XP_005266480.1:p.Asn242Ser, XP_016876116.1:p.Asn242Ser, XP_047286341.1:p.Asn274Ser, XP_047286343.1:p.Asn274Ser, XP_047286342.1:p.Asn274Ser, XP_047286344.1:p.Asn274Ser, XP_047286345.1:p.Asn274Ser

Select item 147851042716.

rs1478510427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:51941188 (GRCh38)
13:52515324 (GRCh37)
Canonical SPDI:: NC_000013.11:51941187:T:C
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.51941188T>C, NC_000013.10:g.52515324T>C, NG_008806.1:g.75307A>G, NM_000053.4:c.3449A>G, NM_000053.3:c.3449A>G, NM_001005918.3:c.2828A>G, NM_001005918.2:c.2828A>G, NM_001330578.2:c.3215A>G, NM_001330578.1:c.3215A>G, NM_001330579.2:c.3197A>G, NM_001330579.1:c.3197A>G, NM_001243182.2:c.3116A>G, NM_001243182.1:c.3116A>G, NM_001406512.1:c.3449A>G, NM_001406516.1:c.3395A>G, NM_001406532.1:c.3197A>G, NM_001406522.1:c.3305A>G, NM_001406518.1:c.3353A>G, NM_001406511.1:c.3449A>G, NM_001406513.1:c.3443A>G, NM_001406528.1:c.3215A>G, NM_001406514.1:c.3416A>G, NM_001406515.1:c.3395A>G, NM_001406521.1:c.3305A>G, NM_001406517.1:c.3353A>G, NM_001406519.1:c.3314A>G, NM_001406520.1:c.3305A>G, NM_001406524.1:c.3272A>G, NM_001406527.1:c.3215A>G, NM_001406523.1:c.3266A>G, NM_001406525.1:c.3254A>G, NM_001406531.1:c.3197A>G, NM_001406526.1:c.3449A>G, NM_001406530.1:c.3209A>G, NM_001406537.1:c.3110A>G, NM_001406534.1:c.3161A>G, NM_001406539.1:c.3020A>G, NM_001406536.1:c.3119A>G, NM_001406535.1:c.3119A>G, NM_001406541.1:c.2963A>G, NM_001406540.1:c.3002A>G, NM_001406542.1:c.2963A>G, NM_001406544.1:c.2867A>G, NM_001406545.1:c.2801A>G, NM_001406546.1:c.2768A>G, NM_001406547.1:c.2606A>G, NM_001406548.1:c.2159A>G, XM_005266430.5:c.3449A>G, XM_005266424.5:c.3353A>G, XM_005266424.4:c.3353A>G, XM_005266424.3:c.3353A>G, XM_005266424.2:c.3353A>G, XM_005266424.1:c.3353A>G, XM_005266431.5:c.3413A>G, XM_005266431.4:c.3413A>G, XM_005266431.3:c.3413A>G, XM_005266431.2:c.3413A>G, XM_005266431.1:c.3413A>G, XM_011535117.4:c.3353A>G, XM_011535117.3:c.3353A>G, XM_011535117.2:c.3353A>G, XM_011535117.1:c.3353A>G, XM_006719837.4:c.3353A>G, XM_005266423.3:c.3353A>G, XM_005266423.2:c.3353A>G, XM_005266423.1:c.3353A>G, XM_017020627.2:c.3353A>G, XM_017020627.1:c.3353A>G, XM_047430385.1:c.3314A>G, XM_047430387.1:c.3215A>G, XM_047430386.1:c.3266A>G, XM_047430388.1:c.3197A>G, XM_047430389.1:c.2963A>G, XM_047430390.1:c.2117A>G, XM_047430391.1:c.1457A>G, XM_047430392.1:c.1265A>G, XM_047430393.1:c.1082A>G, NP_000044.2:p.Asn1150Ser, NP_001005918.1:p.Asn943Ser, NP_001317507.1:p.Asn1072Ser, NP_001317508.1:p.Asn1066Ser, NP_001230111.1:p.Asn1039Ser, XP_005266487.1:p.Asn1150Ser, XP_005266481.1:p.Asn1118Ser, XP_005266488.1:p.Asn1138Ser, XP_011533419.1:p.Asn1118Ser, XP_006719900.1:p.Asn1118Ser, XP_005266480.1:p.Asn1118Ser, XP_016876116.1:p.Asn1118Ser, XP_047286341.1:p.Asn1105Ser, XP_047286343.1:p.Asn1072Ser, XP_047286342.1:p.Asn1089Ser, XP_047286344.1:p.Asn1066Ser, XP_047286345.1:p.Asn988Ser, XP_047286346.1:p.Asn706Ser, XP_047286347.1:p.Asn486Ser, XP_047286348.1:p.Asn422Ser, XP_047286349.1:p.Asn361Ser

Select item 147782261617.

rs1477822616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:51946409 (GRCh38)
13:52520545 (GRCh37)
Canonical SPDI:: NC_000013.11:51946408:G:A
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.51946409G>A, NC_000013.10:g.52520545G>A, NG_008806.1:g.70086C>T, NM_000053.4:c.2935C>T, NM_000053.3:c.2935C>T, NM_001005918.3:c.2314C>T, NM_001005918.2:c.2314C>T, NM_001330578.2:c.2701C>T, NM_001330578.1:c.2701C>T, NM_001330579.2:c.2683C>T, NM_001330579.1:c.2683C>T, NM_001243182.2:c.2602C>T, NM_001243182.1:c.2602C>T, NM_001406512.1:c.2935C>T, NM_001406516.1:c.2881C>T, NM_001406532.1:c.2683C>T, NM_001406522.1:c.2791C>T, NM_001406518.1:c.2839C>T, NM_001406511.1:c.2935C>T, NM_001406513.1:c.2935C>T, NM_001406528.1:c.2701C>T, NM_001406514.1:c.2902C>T, NM_001406515.1:c.2881C>T, NM_001406521.1:c.2791C>T, NM_001406517.1:c.2839C>T, NM_001406519.1:c.2800C>T, NM_001406520.1:c.2791C>T, NM_001406524.1:c.2758C>T, NM_001406527.1:c.2701C>T, NM_001406523.1:c.2935C>T, NM_001406531.1:c.2683C>T, NM_001406526.1:c.2935C>T, NM_001406530.1:c.2695C>T, NM_001406534.1:c.2647C>T, NM_001406539.1:c.2506C>T, NM_001406543.1:c.2587C>T, NM_001406536.1:c.2605C>T, NM_001406538.1:c.2701C>T, NM_001406541.1:c.2449C>T, NM_001406542.1:c.2449C>T, NM_001406544.1:c.2353C>T, NM_001406545.1:c.2287C>T, NM_001406548.1:c.1645C>T, XM_005266430.5:c.2935C>T, XM_005266424.5:c.2839C>T, XM_005266424.4:c.2839C>T, XM_005266424.3:c.2839C>T, XM_005266424.2:c.2839C>T, XM_005266424.1:c.2839C>T, XM_005266431.5:c.2899C>T, XM_005266431.4:c.2899C>T, XM_005266431.3:c.2899C>T, XM_005266431.2:c.2899C>T, XM_005266431.1:c.2899C>T, XM_011535117.4:c.2839C>T, XM_011535117.3:c.2839C>T, XM_011535117.2:c.2839C>T, XM_011535117.1:c.2839C>T, XM_006719837.4:c.2839C>T, XM_005266423.3:c.2839C>T, XM_005266423.2:c.2839C>T, XM_005266423.1:c.2839C>T, XM_017020627.2:c.2839C>T, XM_017020627.1:c.2839C>T, XM_047430385.1:c.2800C>T, XM_047430387.1:c.2701C>T, XM_047430386.1:c.2935C>T, XM_047430388.1:c.2683C>T, XM_047430389.1:c.2449C>T, XM_047430390.1:c.1603C>T, XM_047430391.1:c.943C>T, XM_047430392.1:c.751C>T, XM_047430393.1:c.751C>T

Select item 147644815318.

rs1476448153 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:51958445 (GRCh38)
13:52532581 (GRCh37)
Canonical SPDI:: NC_000013.11:51958444:A:C
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.51958445A>C, NC_000013.10:g.52532581A>C, NG_008806.1:g.58050T>G, NM_000053.4:c.2221T>G, NM_000053.3:c.2221T>G, NM_001330579.2:c.1969T>G, NM_001330579.1:c.1969T>G, NM_001243182.2:c.1888T>G, NM_001243182.1:c.1888T>G, NM_001406512.1:c.2221T>G, NM_001406516.1:c.2221T>G, NM_001406532.1:c.1969T>G, NM_001406518.1:c.2125T>G, NM_001406511.1:c.2221T>G, NM_001406513.1:c.2221T>G, NM_001406514.1:c.2188T>G, NM_001406515.1:c.2221T>G, NM_001406517.1:c.2125T>G, NM_001406519.1:c.2221T>G, NM_001406523.1:c.2221T>G, NM_001406525.1:c.2221T>G, NM_001406531.1:c.1969T>G, NM_001406526.1:c.2221T>G, NM_001406539.1:c.1792T>G, NM_001406543.1:c.1873T>G, NM_001406535.1:c.2221T>G, NM_001406540.1:c.1969T>G, XM_005266430.5:c.2221T>G, XM_005266424.5:c.2125T>G, XM_005266424.4:c.2125T>G, XM_005266424.3:c.2125T>G, XM_005266424.2:c.2125T>G, XM_005266424.1:c.2125T>G, XM_005266431.5:c.2185T>G, XM_005266431.4:c.2185T>G, XM_005266431.3:c.2185T>G, XM_005266431.2:c.2185T>G, XM_005266431.1:c.2185T>G, XM_011535117.4:c.2125T>G, XM_011535117.3:c.2125T>G, XM_011535117.2:c.2125T>G, XM_011535117.1:c.2125T>G, XM_006719837.4:c.2125T>G, XM_005266423.3:c.2125T>G, XM_005266423.2:c.2125T>G, XM_005266423.1:c.2125T>G, XM_017020627.2:c.2125T>G, XM_017020627.1:c.2125T>G, XM_047430385.1:c.2221T>G, XM_047430386.1:c.2221T>G, XM_047430388.1:c.1969T>G, XM_047430390.1:c.889T>G, XM_047430391.1:c.229T>G, XM_047430392.1:c.37T>G, XM_047430393.1:c.37T>G, NP_000044.2:p.Tyr741Asp, NP_001317508.1:p.Tyr657Asp, NP_001230111.1:p.Tyr630Asp, XP_005266487.1:p.Tyr741Asp, XP_005266481.1:p.Tyr709Asp, XP_005266488.1:p.Tyr729Asp, XP_011533419.1:p.Tyr709Asp, XP_006719900.1:p.Tyr709Asp, XP_005266480.1:p.Tyr709Asp, XP_016876116.1:p.Tyr709Asp, XP_047286341.1:p.Tyr741Asp, XP_047286342.1:p.Tyr741Asp, XP_047286344.1:p.Tyr657Asp, XP_047286346.1:p.Tyr297Asp, XP_047286347.1:p.Tyr77Asp, XP_047286348.1:p.Tyr13Asp, XP_047286349.1:p.Tyr13Asp

Select item 147640994619.

rs1476409946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:51946373 (GRCh38)
13:52520509 (GRCh37)
Canonical SPDI:: NC_000013.11:51946372:T:C
Gene:: ATP7B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.51946373T>C, NC_000013.10:g.52520509T>C, NG_008806.1:g.70122A>G, NM_000053.4:c.2971A>G, NM_000053.3:c.2971A>G, NM_001005918.3:c.2350A>G, NM_001005918.2:c.2350A>G, NM_001330578.2:c.2737A>G, NM_001330578.1:c.2737A>G, NM_001330579.2:c.2719A>G, NM_001330579.1:c.2719A>G, NM_001243182.2:c.2638A>G, NM_001243182.1:c.2638A>G, NM_001406512.1:c.2971A>G, NM_001406516.1:c.2917A>G, NM_001406532.1:c.2719A>G, NM_001406522.1:c.2827A>G, NM_001406518.1:c.2875A>G, NM_001406511.1:c.2971A>G, NM_001406513.1:c.2971A>G, NM_001406528.1:c.2737A>G, NM_001406514.1:c.2938A>G, NM_001406515.1:c.2917A>G, NM_001406521.1:c.2827A>G, NM_001406517.1:c.2875A>G, NM_001406519.1:c.2836A>G, NM_001406520.1:c.2827A>G, NM_001406524.1:c.2794A>G, NM_001406527.1:c.2737A>G, NM_001406523.1:c.2971A>G, NM_001406531.1:c.2719A>G, NM_001406526.1:c.2971A>G, NM_001406530.1:c.2731A>G, NM_001406534.1:c.2683A>G, NM_001406539.1:c.2542A>G, NM_001406543.1:c.2623A>G, NM_001406536.1:c.2641A>G, NM_001406538.1:c.2737A>G, NM_001406541.1:c.2485A>G, NM_001406542.1:c.2485A>G, NM_001406544.1:c.2389A>G, NM_001406545.1:c.2323A>G, NM_001406548.1:c.1681A>G, XM_005266430.5:c.2971A>G, XM_005266424.5:c.2875A>G, XM_005266424.4:c.2875A>G, XM_005266424.3:c.2875A>G, XM_005266424.2:c.2875A>G, XM_005266424.1:c.2875A>G, XM_005266431.5:c.2935A>G, XM_005266431.4:c.2935A>G, XM_005266431.3:c.2935A>G, XM_005266431.2:c.2935A>G, XM_005266431.1:c.2935A>G, XM_011535117.4:c.2875A>G, XM_011535117.3:c.2875A>G, XM_011535117.2:c.2875A>G, XM_011535117.1:c.2875A>G, XM_006719837.4:c.2875A>G, XM_005266423.3:c.2875A>G, XM_005266423.2:c.2875A>G, XM_005266423.1:c.2875A>G, XM_017020627.2:c.2875A>G, XM_017020627.1:c.2875A>G, XM_047430385.1:c.2836A>G, XM_047430387.1:c.2737A>G, XM_047430386.1:c.2971A>G, XM_047430388.1:c.2719A>G, XM_047430389.1:c.2485A>G, XM_047430390.1:c.1639A>G, XM_047430391.1:c.979A>G, XM_047430392.1:c.787A>G, XM_047430393.1:c.787A>G, NP_000044.2:p.Thr991Ala, NP_001005918.1:p.Thr784Ala, NP_001317507.1:p.Thr913Ala, NP_001317508.1:p.Thr907Ala, NP_001230111.1:p.Thr880Ala, XP_005266487.1:p.Thr991Ala, XP_005266481.1:p.Thr959Ala, XP_005266488.1:p.Thr979Ala, XP_011533419.1:p.Thr959Ala, XP_006719900.1:p.Thr959Ala, XP_005266480.1:p.Thr959Ala, XP_016876116.1:p.Thr959Ala, XP_047286341.1:p.Thr946Ala, XP_047286343.1:p.Thr913Ala, XP_047286342.1:p.Thr991Ala, XP_047286344.1:p.Thr907Ala, XP_047286345.1:p.Thr829Ala, XP_047286346.1:p.Thr547Ala, XP_047286347.1:p.Thr327Ala, XP_047286348.1:p.Thr263Ala, XP_047286349.1:p.Thr263Ala

Select item 147638164720.

rs1476381647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:51974116 (GRCh38)
13:52548252 (GRCh37)
Canonical SPDI:: NC_000013.11:51974115:C:G,NC_000013.11:51974115:C:T
Gene:: ATP7B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.51974116C>G, NC_000013.11:g.51974116C>T, NC_000013.10:g.52548252C>G, NC_000013.10:g.52548252C>T, NG_008806.1:g.42379G>C, NG_008806.1:g.42379G>A, NM_000053.4:c.1104G>C, NM_000053.4:c.1104G>A, NM_000053.3:c.1104G>C, NM_000053.3:c.1104G>A, NM_001005918.3:c.1104G>C, NM_001005918.3:c.1104G>A, NM_001005918.2:c.1104G>C, NM_001005918.2:c.1104G>A, NM_001330578.2:c.1104G>C, NM_001330578.2:c.1104G>A, NM_001330578.1:c.1104G>C, NM_001330578.1:c.1104G>A, NM_001330579.2:c.1104G>C, NM_001330579.2:c.1104G>A, NM_001330579.1:c.1104G>C, NM_001330579.1:c.1104G>A, NM_001406512.1:c.1104G>C, NM_001406512.1:c.1104G>A, NM_001406516.1:c.1104G>C, NM_001406516.1:c.1104G>A, NM_001406532.1:c.1104G>C, NM_001406532.1:c.1104G>A, NM_001406522.1:c.1104G>C, NM_001406522.1:c.1104G>A, NM_001406518.1:c.1008G>C, NM_001406518.1:c.1008G>A, NM_001406511.1:c.1104G>C, NM_001406511.1:c.1104G>A, NM_001406513.1:c.1104G>C, NM_001406513.1:c.1104G>A, NM_001406528.1:c.1104G>C, NM_001406528.1:c.1104G>A, NM_001406514.1:c.1104G>C, NM_001406514.1:c.1104G>A, NM_001406515.1:c.1104G>C, NM_001406515.1:c.1104G>A, NM_001406521.1:c.1104G>C, NM_001406521.1:c.1104G>A, NM_001406517.1:c.1008G>C, NM_001406517.1:c.1008G>A, NM_001406519.1:c.1104G>C, NM_001406519.1:c.1104G>A, NM_001406520.1:c.1104G>C, NM_001406520.1:c.1104G>A, NM_001406524.1:c.1104G>C, NM_001406524.1:c.1104G>A, NM_001406527.1:c.1104G>C, NM_001406527.1:c.1104G>A, NM_001406523.1:c.1104G>C, NM_001406523.1:c.1104G>A, NM_001406525.1:c.1104G>C, NM_001406525.1:c.1104G>A, NM_001406531.1:c.1104G>C, NM_001406531.1:c.1104G>A, NM_001406526.1:c.1104G>C, NM_001406526.1:c.1104G>A, NM_001406530.1:c.1008G>C, NM_001406530.1:c.1008G>A, NM_001406537.1:c.1104G>C, NM_001406537.1:c.1104G>A, NM_001406534.1:c.1104G>C, NM_001406534.1:c.1104G>A, NM_001406543.1:c.1008G>C, NM_001406543.1:c.1008G>A, NM_001406536.1:c.1008G>C, NM_001406536.1:c.1008G>A, NM_001406535.1:c.1104G>C, NM_001406535.1:c.1104G>A, NM_001406538.1:c.1104G>C, NM_001406538.1:c.1104G>A, NM_001406541.1:c.1104G>C, NM_001406541.1:c.1104G>A, NM_001406540.1:c.1104G>C, NM_001406540.1:c.1104G>A, NM_001406542.1:c.1104G>C, NM_001406542.1:c.1104G>A, NM_001406544.1:c.1008G>C, NM_001406544.1:c.1008G>A, NM_001406545.1:c.1104G>C, NM_001406545.1:c.1104G>A, NM_001406546.1:c.1104G>C, NM_001406546.1:c.1104G>A, NM_001406547.1:c.1104G>C, NM_001406547.1:c.1104G>A, NM_001406548.1:c.1104G>C, NM_001406548.1:c.1104G>A, XM_005266430.5:c.1104G>C, XM_005266430.5:c.1104G>A, XM_005266424.5:c.1008G>C, XM_005266424.5:c.1008G>A, XM_005266424.4:c.1008G>C, XM_005266424.4:c.1008G>A, XM_005266424.3:c.1008G>C, XM_005266424.3:c.1008G>A, XM_005266424.2:c.1008G>C, XM_005266424.2:c.1008G>A, XM_005266424.1:c.1008G>C, XM_005266424.1:c.1008G>A, XM_005266431.5:c.1068G>C, XM_005266431.5:c.1068G>A, XM_005266431.4:c.1068G>C, XM_005266431.4:c.1068G>A, XM_005266431.3:c.1068G>C, XM_005266431.3:c.1068G>A, XM_005266431.2:c.1068G>C, XM_005266431.2:c.1068G>A, XM_005266431.1:c.1068G>C, XM_005266431.1:c.1068G>A, XM_011535117.4:c.1008G>C, XM_011535117.4:c.1008G>A, XM_011535117.3:c.1008G>C, XM_011535117.3:c.1008G>A, XM_011535117.2:c.1008G>C, XM_011535117.2:c.1008G>A, XM_011535117.1:c.1008G>C, XM_011535117.1:c.1008G>A, XM_006719837.4:c.1008G>C, XM_006719837.4:c.1008G>A, XM_005266423.3:c.1008G>C, XM_005266423.3:c.1008G>A, XM_005266423.2:c.1008G>C, XM_005266423.2:c.1008G>A, XM_005266423.1:c.1008G>C, XM_005266423.1:c.1008G>A, XM_017020627.2:c.1008G>C, XM_017020627.2:c.1008G>A, XM_017020627.1:c.1008G>C, XM_017020627.1:c.1008G>A, XM_047430385.1:c.1104G>C, XM_047430385.1:c.1104G>A, XM_047430387.1:c.1104G>C, XM_047430387.1:c.1104G>A, XM_047430386.1:c.1104G>C, XM_047430386.1:c.1104G>A, XM_047430388.1:c.1104G>C, XM_047430388.1:c.1104G>A, XM_047430389.1:c.1104G>C, XM_047430389.1:c.1104G>A, NP_000044.2:p.Met368Ile, NP_000044.2:p.Met368Ile, NP_001005918.1:p.Met368Ile, NP_001005918.1:p.Met368Ile, NP_001317507.1:p.Met368Ile, NP_001317507.1:p.Met368Ile, NP_001317508.1:p.Met368Ile, NP_001317508.1:p.Met368Ile, XP_005266487.1:p.Met368Ile, XP_005266487.1:p.Met368Ile, XP_005266481.1:p.Met336Ile, XP_005266481.1:p.Met336Ile, XP_005266488.1:p.Met356Ile, XP_005266488.1:p.Met356Ile, XP_011533419.1:p.Met336Ile, XP_011533419.1:p.Met336Ile, XP_006719900.1:p.Met336Ile, XP_006719900.1:p.Met336Ile, XP_005266480.1:p.Met336Ile, XP_005266480.1:p.Met336Ile, XP_016876116.1:p.Met336Ile, XP_016876116.1:p.Met336Ile, XP_047286341.1:p.Met368Ile, XP_047286341.1:p.Met368Ile, XP_047286343.1:p.Met368Ile, XP_047286343.1:p.Met368Ile, XP_047286342.1:p.Met368Ile, XP_047286342.1:p.Met368Ile, XP_047286344.1:p.Met368Ile, XP_047286344.1:p.Met368Ile, XP_047286345.1:p.Met368Ile, XP_047286345.1:p.Met368Ile

<< First< Prev

Page of 81

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 1060085922) (1606)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: