SNP Links for Protein (Select 1034590028) - SNP

Links from Protein

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Select item 14883384991.

rs1488338499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:101177756 (GRCh38)
15:101717961 (GRCh37)
Canonical SPDI:: NC_000015.10:101177755:A:C
Gene:: CHSY1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101177756A>C, NC_000015.9:g.101717961A>C, NG_031908.1:g.79177T>G, NM_014918.5:c.2041T>G, NM_014918.4:c.2041T>G, XM_011521364.3:c.2125T>G, XM_011521364.2:c.2125T>G, XM_011521364.1:c.2125T>G, XM_017022011.2:c.1225T>G, XM_017022011.1:c.1225T>G, XM_047432240.1:c.1225T>G, XM_024449873.1:c.1420T>G, NP_055733.2:p.Phe681Val, XP_011519666.1:p.Phe709Val, XP_016877500.1:p.Phe409Val, XP_047288196.1:p.Phe409Val, XP_024305641.1:p.Phe474Val

Select item 14867967702.

rs1486796770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:101177711 (GRCh38)
15:101717916 (GRCh37)
Canonical SPDI:: NC_000015.10:101177710:T:C
Gene:: CHSY1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.101177711T>C, NC_000015.9:g.101717916T>C, NG_031908.1:g.79222A>G, NM_014918.5:c.2086A>G, NM_014918.4:c.2086A>G, XM_011521364.3:c.2170A>G, XM_011521364.2:c.2170A>G, XM_011521364.1:c.2170A>G, XM_017022011.2:c.1270A>G, XM_017022011.1:c.1270A>G, XM_047432240.1:c.1270A>G, XM_024449873.1:c.1465A>G, NP_055733.2:p.Thr696Ala, XP_011519666.1:p.Thr724Ala, XP_016877500.1:p.Thr424Ala, XP_047288196.1:p.Thr424Ala, XP_024305641.1:p.Thr489Ala

Select item 14861459103.

rs1486145910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:101178418 (GRCh38)
15:101718623 (GRCh37)
Canonical SPDI:: NC_000015.10:101178417:C:A
Gene:: CHSY1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.101178418C>A, NC_000015.9:g.101718623C>A, NG_031908.1:g.78515G>T, NM_014918.5:c.1379G>T, NM_014918.4:c.1379G>T, XM_011521364.3:c.1463G>T, XM_011521364.2:c.1463G>T, XM_011521364.1:c.1463G>T, XM_017022011.2:c.563G>T, XM_017022011.1:c.563G>T, XM_047432240.1:c.563G>T, XM_024449873.1:c.758G>T, NP_055733.2:p.Gly460Val, XP_011519666.1:p.Gly488Val, XP_016877500.1:p.Gly188Val, XP_047288196.1:p.Gly188Val, XP_024305641.1:p.Gly253Val

Select item 14830752014.

rs1483075201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:101177464 (GRCh38)
15:101717669 (GRCh37)
Canonical SPDI:: NC_000015.10:101177463:G:A
Gene:: CHSY1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.101177464G>A, NC_000015.9:g.101717669G>A, NG_031908.1:g.79469C>T, NM_014918.5:c.2333C>T, NM_014918.4:c.2333C>T, XM_011521364.3:c.2417C>T, XM_011521364.2:c.2417C>T, XM_011521364.1:c.2417C>T, XM_017022011.2:c.1517C>T, XM_017022011.1:c.1517C>T, XM_047432240.1:c.1517C>T, XM_024449873.1:c.1712C>T, NP_055733.2:p.Ala778Val, XP_011519666.1:p.Ala806Val, XP_016877500.1:p.Ala506Val, XP_047288196.1:p.Ala506Val, XP_024305641.1:p.Ala571Val

Select item 14826816925.

rs1482681692 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTTTTT [Show Flanks]
Chromosome:: 15:101177458 (GRCh38)
15:101717664 (GRCh37)
Canonical SPDI:: NC_000015.10:101177458:T:TTTTTTTTTT
Gene:: CHSY1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
HGVS:: NC_000015.10:g.101177459_101177460insTTTTTTTTT, NC_000015.9:g.101717664_101717665insTTTTTTTTT, NG_031908.1:g.79474_79475insAAAAAAAAA, NM_014918.5:c.2338_2339insAAAAAAAAA, NM_014918.4:c.2338_2339insAAAAAAAAA, XM_011521364.3:c.2422_2423insAAAAAAAAA, XM_011521364.2:c.2422_2423insAAAAAAAAA, XM_011521364.1:c.2422_2423insAAAAAAAAA, XM_017022011.2:c.1522_1523insAAAAAAAAA, XM_017022011.1:c.1522_1523insAAAAAAAAA, XM_047432240.1:c.1522_1523insAAAAAAAAA, XM_024449873.1:c.1717_1718insAAAAAAAAA, NP_055733.2:p.Met780_Trp781insLysLysLys, XP_011519666.1:p.Met808_Trp809insLysLysLys, XP_016877500.1:p.Met508_Trp509insLysLysLys, XP_047288196.1:p.Met508_Trp509insLysLysLys, XP_024305641.1:p.Met573_Trp574insLysLysLys

Select item 14823934476.

rs1482393447 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:101178709 (GRCh38)
15:101718914 (GRCh37)
Canonical SPDI:: NC_000015.10:101178708:A:C
Gene:: CHSY1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.101178709A>C, NC_000015.9:g.101718914A>C, NG_031908.1:g.78224T>G, NM_014918.5:c.1088T>G, NM_014918.4:c.1088T>G, XM_011521364.3:c.1172T>G, XM_011521364.2:c.1172T>G, XM_011521364.1:c.1172T>G, XM_017022011.2:c.272T>G, XM_017022011.1:c.272T>G, XM_047432240.1:c.272T>G, XM_024449873.1:c.467T>G, NP_055733.2:p.Met363Arg, XP_011519666.1:p.Met391Arg, XP_016877500.1:p.Met91Arg, XP_047288196.1:p.Met91Arg, XP_024305641.1:p.Met156Arg

Select item 14823880717.

rs1482388071 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATT>- [Show Flanks]
Chromosome:: 15:101177927 (GRCh38)
15:101718132 (GRCh37)
Canonical SPDI:: NC_000015.10:101177923:ATTCATT:ATT
Gene:: CHSY1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101177927_101177930del, NC_000015.9:g.101718132_101718135del, NG_031908.1:g.79006_79009del, NM_014918.5:c.1870_1873del, NM_014918.4:c.1870_1873del, XM_011521364.3:c.1954_1957del, XM_011521364.2:c.1954_1957del, XM_011521364.1:c.1954_1957del, XM_017022011.2:c.1054_1057del, XM_017022011.1:c.1054_1057del, XM_047432240.1:c.1054_1057del, XM_024449873.1:c.1249_1252del, NP_055733.2:p.Glu624fs, XP_011519666.1:p.Glu652fs, XP_016877500.1:p.Glu352fs, XP_047288196.1:p.Glu352fs, XP_024305641.1:p.Glu417fs

Select item 14808708368.

rs1480870836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:101178399 (GRCh38)
15:101718604 (GRCh37)
Canonical SPDI:: NC_000015.10:101178398:A:T
Gene:: CHSY1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101178399A>T, NC_000015.9:g.101718604A>T, NG_031908.1:g.78534T>A, NM_014918.5:c.1398T>A, NM_014918.4:c.1398T>A, XM_011521364.3:c.1482T>A, XM_011521364.2:c.1482T>A, XM_011521364.1:c.1482T>A, XM_017022011.2:c.582T>A, XM_017022011.1:c.582T>A, XM_047432240.1:c.582T>A, XM_024449873.1:c.777T>A

Select item 14803174039.

rs1480317403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:101178948 (GRCh38)
15:101719153 (GRCh37)
Canonical SPDI:: NC_000015.10:101178947:C:T
Gene:: CHSY1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/3 (ALFA)
T=0.00067/3 (Estonian)
HGVS:: NC_000015.10:g.101178948C>T, NC_000015.9:g.101719153C>T, NG_031908.1:g.77985G>A, NM_014918.5:c.849G>A, NM_014918.4:c.849G>A, XM_011521364.3:c.933G>A, XM_011521364.2:c.933G>A, XM_011521364.1:c.933G>A, XM_017022011.2:c.33G>A, XM_017022011.1:c.33G>A, XM_047432240.1:c.33G>A, XM_024449873.1:c.228G>A

Select item 147633978710.

rs1476339787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:101178005 (GRCh38)
15:101718210 (GRCh37)
Canonical SPDI:: NC_000015.10:101178004:C:T
Gene:: CHSY1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000015.10:g.101178005C>T, NC_000015.9:g.101718210C>T, NG_031908.1:g.78928G>A, NM_014918.5:c.1792G>A, NM_014918.4:c.1792G>A, XM_011521364.3:c.1876G>A, XM_011521364.2:c.1876G>A, XM_011521364.1:c.1876G>A, XM_017022011.2:c.976G>A, XM_017022011.1:c.976G>A, XM_047432240.1:c.976G>A, XM_024449873.1:c.1171G>A, NP_055733.2:p.Asp598Asn, XP_011519666.1:p.Asp626Asn, XP_016877500.1:p.Asp326Asn, XP_047288196.1:p.Asp326Asn, XP_024305641.1:p.Asp391Asn

Select item 147608135311.

rs1476081353 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGTACTCAG>- [Show Flanks]
Chromosome:: 15:101178454 (GRCh38)
15:101718659 (GRCh37)
Canonical SPDI:: NC_000015.10:101178452:GATGTACTCAG:G
Gene:: CHSY1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.101178454_101178463del, NC_000015.9:g.101718659_101718668del, NG_031908.1:g.78471_78480del, NM_014918.5:c.1335_1344del, NM_014918.4:c.1335_1344del, XM_011521364.3:c.1419_1428del, XM_011521364.2:c.1419_1428del, XM_011521364.1:c.1419_1428del, XM_017022011.2:c.519_528del, XM_017022011.1:c.519_528del, XM_047432240.1:c.519_528del, XM_024449873.1:c.714_723del, NP_055733.2:p.Glu446fs, XP_011519666.1:p.Glu474fs, XP_016877500.1:p.Glu174fs, XP_047288196.1:p.Glu174fs, XP_024305641.1:p.Glu239fs

Select item 147510907712.

rs1475109077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:101177426 (GRCh38)
15:101717631 (GRCh37)
Canonical SPDI:: NC_000015.10:101177425:T:A
Gene:: CHSY1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.101177426T>A, NC_000015.9:g.101717631T>A, NG_031908.1:g.79507A>T, NM_014918.5:c.2371A>T, NM_014918.4:c.2371A>T, XM_011521364.3:c.2455A>T, XM_011521364.2:c.2455A>T, XM_011521364.1:c.2455A>T, XM_017022011.2:c.1555A>T, XM_017022011.1:c.1555A>T, XM_047432240.1:c.1555A>T, XM_024449873.1:c.1750A>T, NP_055733.2:p.Lys791Ter, XP_011519666.1:p.Lys819Ter, XP_016877500.1:p.Lys519Ter, XP_047288196.1:p.Lys519Ter, XP_024305641.1:p.Lys584Ter

Select item 147367679913.

rs1473676799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:101177769 (GRCh38)
15:101717974 (GRCh37)
Canonical SPDI:: NC_000015.10:101177768:G:C
Gene:: CHSY1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101177769G>C, NC_000015.9:g.101717974G>C, NG_031908.1:g.79164C>G, NM_014918.5:c.2028C>G, NM_014918.4:c.2028C>G, XM_011521364.3:c.2112C>G, XM_011521364.2:c.2112C>G, XM_011521364.1:c.2112C>G, XM_017022011.2:c.1212C>G, XM_017022011.1:c.1212C>G, XM_047432240.1:c.1212C>G, XM_024449873.1:c.1407C>G, NP_055733.2:p.Asp676Glu, XP_011519666.1:p.Asp704Glu, XP_016877500.1:p.Asp404Glu, XP_047288196.1:p.Asp404Glu, XP_024305641.1:p.Asp469Glu

Select item 147068437014.

rs1470684370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:101178863 (GRCh38)
15:101719068 (GRCh37)
Canonical SPDI:: NC_000015.10:101178862:G:C
Gene:: CHSY1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101178863G>C, NC_000015.9:g.101719068G>C, NG_031908.1:g.78070C>G, NM_014918.5:c.934C>G, NM_014918.4:c.934C>G, XM_011521364.3:c.1018C>G, XM_011521364.2:c.1018C>G, XM_011521364.1:c.1018C>G, XM_017022011.2:c.118C>G, XM_017022011.1:c.118C>G, XM_047432240.1:c.118C>G, XM_024449873.1:c.313C>G, NP_055733.2:p.Gln312Glu, XP_011519666.1:p.Gln340Glu, XP_016877500.1:p.Gln40Glu, XP_047288196.1:p.Gln40Glu, XP_024305641.1:p.Gln105Glu

Select item 147045901315.

rs1470459013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:101178341 (GRCh38)
15:101718546 (GRCh37)
Canonical SPDI:: NC_000015.10:101178340:C:T
Gene:: CHSY1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.101178341C>T, NC_000015.9:g.101718546C>T, NG_031908.1:g.78592G>A, NM_014918.5:c.1456G>A, NM_014918.4:c.1456G>A, XM_011521364.3:c.1540G>A, XM_011521364.2:c.1540G>A, XM_011521364.1:c.1540G>A, XM_017022011.2:c.640G>A, XM_017022011.1:c.640G>A, XM_047432240.1:c.640G>A, XM_024449873.1:c.835G>A, NP_055733.2:p.Glu486Lys, XP_011519666.1:p.Glu514Lys, XP_016877500.1:p.Glu214Lys, XP_047288196.1:p.Glu214Lys, XP_024305641.1:p.Glu279Lys

Select item 147034690416.

rs1470346904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:101178169 (GRCh38)
15:101718374 (GRCh37)
Canonical SPDI:: NC_000015.10:101178168:C:T
Gene:: CHSY1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.101178169C>T, NC_000015.9:g.101718374C>T, NG_031908.1:g.78764G>A, NM_014918.5:c.1628G>A, NM_014918.4:c.1628G>A, XM_011521364.3:c.1712G>A, XM_011521364.2:c.1712G>A, XM_011521364.1:c.1712G>A, XM_017022011.2:c.812G>A, XM_017022011.1:c.812G>A, XM_047432240.1:c.812G>A, XM_024449873.1:c.1007G>A, NP_055733.2:p.Arg543His, XP_011519666.1:p.Arg571His, XP_016877500.1:p.Arg271His, XP_047288196.1:p.Arg271His, XP_024305641.1:p.Arg336His

Select item 146461768617.

rs1464617686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:101177999 (GRCh38)
15:101718204 (GRCh37)
Canonical SPDI:: NC_000015.10:101177998:G:A
Gene:: CHSY1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101177999G>A, NC_000015.9:g.101718204G>A, NG_031908.1:g.78934C>T, NM_014918.5:c.1798C>T, NM_014918.4:c.1798C>T, XM_011521364.3:c.1882C>T, XM_011521364.2:c.1882C>T, XM_011521364.1:c.1882C>T, XM_017022011.2:c.982C>T, XM_017022011.1:c.982C>T, XM_047432240.1:c.982C>T, XM_024449873.1:c.1177C>T, NP_055733.2:p.Gln600Ter, XP_011519666.1:p.Gln628Ter, XP_016877500.1:p.Gln328Ter, XP_047288196.1:p.Gln328Ter, XP_024305641.1:p.Gln393Ter

Select item 146413066818.

rs1464130668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:101177971 (GRCh38)
15:101718176 (GRCh37)
Canonical SPDI:: NC_000015.10:101177970:G:A
Gene:: CHSY1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101177971G>A, NC_000015.9:g.101718176G>A, NG_031908.1:g.78962C>T, NM_014918.5:c.1826C>T, NM_014918.4:c.1826C>T, XM_011521364.3:c.1910C>T, XM_011521364.2:c.1910C>T, XM_011521364.1:c.1910C>T, XM_017022011.2:c.1010C>T, XM_017022011.1:c.1010C>T, XM_047432240.1:c.1010C>T, XM_024449873.1:c.1205C>T, NP_055733.2:p.Ser609Leu, XP_011519666.1:p.Ser637Leu, XP_016877500.1:p.Ser337Leu, XP_047288196.1:p.Ser337Leu, XP_024305641.1:p.Ser402Leu

Select item 146327038619.

rs1463270386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:101177631 (GRCh38)
15:101717836 (GRCh37)
Canonical SPDI:: NC_000015.10:101177630:G:A,NC_000015.10:101177630:G:C
Gene:: CHSY1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.101177631G>A, NC_000015.10:g.101177631G>C, NC_000015.9:g.101717836G>A, NC_000015.9:g.101717836G>C, NG_031908.1:g.79302C>T, NG_031908.1:g.79302C>G, NM_014918.5:c.2166C>T, NM_014918.5:c.2166C>G, NM_014918.4:c.2166C>T, NM_014918.4:c.2166C>G, XM_011521364.3:c.2250C>T, XM_011521364.3:c.2250C>G, XM_011521364.2:c.2250C>T, XM_011521364.2:c.2250C>G, XM_011521364.1:c.2250C>T, XM_011521364.1:c.2250C>G, XM_017022011.2:c.1350C>T, XM_017022011.2:c.1350C>G, XM_017022011.1:c.1350C>T, XM_017022011.1:c.1350C>G, XM_047432240.1:c.1350C>T, XM_047432240.1:c.1350C>G, XM_024449873.1:c.1545C>T, XM_024449873.1:c.1545C>G, NP_055733.2:p.Asp722Glu, XP_011519666.1:p.Asp750Glu, XP_016877500.1:p.Asp450Glu, XP_047288196.1:p.Asp450Glu, XP_024305641.1:p.Asp515Glu

Select item 146310153620.

rs1463101536 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:101178573 (GRCh38)
15:101718778 (GRCh37)
Canonical SPDI:: NC_000015.10:101178572:A:G
Gene:: CHSY1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.101178573A>G, NC_000015.9:g.101718778A>G, NG_031908.1:g.78360T>C, NM_014918.5:c.1224T>C, NM_014918.4:c.1224T>C, XM_011521364.3:c.1308T>C, XM_011521364.2:c.1308T>C, XM_011521364.1:c.1308T>C, XM_017022011.2:c.408T>C, XM_017022011.1:c.408T>C, XM_047432240.1:c.408T>C, XM_024449873.1:c.603T>C

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