SNP Links for Protein (Select 1034646018) - SNP

Select item 14900169341.

rs1490016934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:75653173 (GRCh38)
5:74948998 (GRCh37)
Canonical SPDI:: NC_000005.10:75653172:G:T
Gene:: ANKDD1B (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.75653173G>T, NC_000005.9:g.74948998G>T, XM_011543618.3:c.830G>T, XM_011543618.2:c.830G>T, XM_011543618.1:c.830G>T, XM_011543623.3:c.395G>T, XM_011543623.2:c.395G>T, XM_011543623.1:c.395G>T, XM_017009814.2:c.935G>T, XM_017009814.1:c.935G>T, NM_001276713.2:c.830G>T, NM_001276713.1:c.830G>T, XM_017009815.2:c.935G>T, XM_017009815.1:c.935G>T, XM_047417686.1:c.182G>T, NM_001271529.1:c.632G>T, XP_011541920.1:p.Arg277Met, XP_011541925.1:p.Arg132Met, XP_016865303.1:p.Arg312Met, NP_001263642.1:p.Arg277Met, XP_016865304.1:p.Arg312Met, XP_047273642.1:p.Arg61Met

Select item 14885242982.

rs1488524298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:75663444 (GRCh38)
5:74959269 (GRCh37)
Canonical SPDI:: NC_000005.10:75663443:C:G,NC_000005.10:75663443:C:T
Gene:: ANKDD1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.75663444C>G, NC_000005.10:g.75663444C>T, NC_000005.9:g.74959269C>G, NC_000005.9:g.74959269C>T, NG_083739.1:g.176C>G, NG_083739.1:g.176C>T, XM_011543618.3:c.1146C>G, XM_011543618.3:c.1146C>T, XM_011543618.2:c.1146C>G, XM_011543618.2:c.1146C>T, XM_011543618.1:c.1146C>G, XM_011543618.1:c.1146C>T, XM_011543623.3:c.711C>G, XM_011543623.3:c.711C>T, XM_011543623.2:c.711C>G, XM_011543623.2:c.711C>T, XM_011543623.1:c.711C>G, XM_011543623.1:c.711C>T, XM_017009814.2:c.1251C>G, XM_017009814.2:c.1251C>T, XM_017009814.1:c.1251C>G, XM_017009814.1:c.1251C>T, NM_001276713.2:c.1146C>G, NM_001276713.2:c.1146C>T, NM_001276713.1:c.1146C>G, NM_001276713.1:c.1146C>T, XM_017009815.2:c.1251C>G, XM_017009815.2:c.1251C>T, XM_017009815.1:c.1251C>G, XM_017009815.1:c.1251C>T, XM_017009816.2:c.1053C>G, XM_017009816.2:c.1053C>T, XM_017009816.1:c.1053C>G, XM_017009816.1:c.1053C>T, XM_047417686.1:c.498C>G, XM_047417686.1:c.498C>T, NM_001271529.1:c.948C>G, NM_001271529.1:c.948C>T

Select item 14810356823.

rs1481035682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:75634992 (GRCh38)
5:74930817 (GRCh37)
Canonical SPDI:: NC_000005.10:75634991:A:T
Gene:: ANKDD1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.75634992A>T, NC_000005.9:g.74930817A>T, XM_011543618.3:c.695A>T, XM_011543618.2:c.695A>T, XM_011543618.1:c.695A>T, XM_011543623.3:c.260A>T, XM_011543623.2:c.260A>T, XM_011543623.1:c.260A>T, XM_017009814.2:c.800A>T, XM_017009814.1:c.800A>T, NM_001276713.2:c.695A>T, NM_001276713.1:c.695A>T, XM_017009815.2:c.800A>T, XM_017009815.1:c.800A>T, XM_017009816.2:c.800A>T, XM_017009816.1:c.800A>T, XM_047417686.1:c.47A>T, NM_001271529.1:c.398A>T, XP_011541920.1:p.Asp232Val, XP_011541925.1:p.Asp87Val, XP_016865303.1:p.Asp267Val, NP_001263642.1:p.Asp232Val, XP_016865304.1:p.Asp267Val, XP_016865305.1:p.Asp267Val, XP_047273642.1:p.Asp16Val

Select item 14799497144.

rs1479949714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:75663446 (GRCh38)
5:74959271 (GRCh37)
Canonical SPDI:: NC_000005.10:75663445:T:C
Gene:: ANKDD1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.75663446T>C, NC_000005.9:g.74959271T>C, NG_083739.1:g.178T>C, XM_011543618.3:c.1148T>C, XM_011543618.2:c.1148T>C, XM_011543618.1:c.1148T>C, XM_011543623.3:c.713T>C, XM_011543623.2:c.713T>C, XM_011543623.1:c.713T>C, XM_017009814.2:c.1253T>C, XM_017009814.1:c.1253T>C, NM_001276713.2:c.1148T>C, NM_001276713.1:c.1148T>C, XM_017009815.2:c.1253T>C, XM_017009815.1:c.1253T>C, XM_017009816.2:c.1055T>C, XM_017009816.1:c.1055T>C, XM_047417686.1:c.500T>C, NM_001271529.1:c.950T>C, XP_011541920.1:p.Val383Ala, XP_011541925.1:p.Val238Ala, XP_016865303.1:p.Val418Ala, NP_001263642.1:p.Val383Ala, XP_016865304.1:p.Val418Ala, XP_016865305.1:p.Val352Ala, XP_047273642.1:p.Val167Ala

Select item 14796263495.

rs1479626349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:75616848 (GRCh38)
5:74912673 (GRCh37)
Canonical SPDI:: NC_000005.10:75616847:A:C,NC_000005.10:75616847:A:G
Gene:: ANKDD1B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD_exomes)
G=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.75616848A>C, NC_000005.10:g.75616848A>G, NC_000005.9:g.74912673A>C, NC_000005.9:g.74912673A>G, XM_011543618.3:c.238A>C, XM_011543618.3:c.238A>G, XM_011543618.2:c.238A>C, XM_011543618.2:c.238A>G, XM_011543618.1:c.238A>C, XM_011543618.1:c.238A>G, XM_017009814.2:c.238A>C, XM_017009814.2:c.238A>G, XM_017009814.1:c.238A>C, XM_017009814.1:c.238A>G, NM_001276713.2:c.238A>C, NM_001276713.2:c.238A>G, NM_001276713.1:c.238A>C, NM_001276713.1:c.238A>G, XM_017009815.2:c.238A>C, XM_017009815.2:c.238A>G, XM_017009815.1:c.238A>C, XM_017009815.1:c.238A>G, XM_017009816.2:c.238A>C, XM_017009816.2:c.238A>G, XM_017009816.1:c.238A>C, XM_017009816.1:c.238A>G, XP_011541920.1:p.Asn80His, XP_011541920.1:p.Asn80Asp, XP_016865303.1:p.Asn80His, XP_016865303.1:p.Asn80Asp, NP_001263642.1:p.Asn80His, NP_001263642.1:p.Asn80Asp, XP_016865304.1:p.Asn80His, XP_016865304.1:p.Asn80Asp, XP_016865305.1:p.Asn80His, XP_016865305.1:p.Asn80Asp

Select item 14786846446.

rs1478684644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:75669330 (GRCh38)
5:74965155 (GRCh37)
Canonical SPDI:: NC_000005.10:75669329:C:G,NC_000005.10:75669329:C:T
Gene:: ANKDD1B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
G=0.000142/2 (TOMMO)
T=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.75669330C>G, NC_000005.10:g.75669330C>T, NC_000005.9:g.74965155C>G, NC_000005.9:g.74965155C>T, XM_011543623.3:c.1037C>G, XM_011543623.3:c.1037C>T, XM_011543623.2:c.1037C>G, XM_011543623.2:c.1037C>T, XM_011543623.1:c.1037C>G, XM_011543623.1:c.1037C>T, XM_017009814.2:c.1577C>G, XM_017009814.2:c.1577C>T, XM_017009814.1:c.1577C>G, XM_017009814.1:c.1577C>T, NM_001276713.2:c.1472C>G, NM_001276713.2:c.1472C>T, NM_001276713.1:c.1472C>G, NM_001276713.1:c.1472C>T, XM_017009816.2:c.1379C>G, XM_017009816.2:c.1379C>T, XM_017009816.1:c.1379C>G, XM_017009816.1:c.1379C>T, XM_047417686.1:c.824C>G, XM_047417686.1:c.824C>T, NM_001271529.1:c.1274C>G, NM_001271529.1:c.1274C>T, XP_011541925.1:p.Pro346Arg, XP_011541925.1:p.Pro346Leu, XP_016865303.1:p.Pro526Arg, XP_016865303.1:p.Pro526Leu, NP_001263642.1:p.Pro491Arg, NP_001263642.1:p.Pro491Leu, XP_016865305.1:p.Pro460Arg, XP_016865305.1:p.Pro460Leu, XP_047273642.1:p.Pro275Arg, XP_047273642.1:p.Pro275Leu

Select item 14729501317.

rs1472950131 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:75620359 (GRCh38)
5:74916184 (GRCh37)
Canonical SPDI:: NC_000005.10:75620358:A:C
Gene:: ANKDD1B (Varview)
Functional Consequence:: intron_variant,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_000005.10:g.75620359A>C, NC_000005.9:g.74916184A>C, XM_011543618.3:c.342A>C, XM_011543618.2:c.342A>C, XM_011543618.1:c.342A>C, XM_017009814.2:c.342A>C, XM_017009814.1:c.342A>C, NM_001276713.2:c.342A>C, NM_001276713.1:c.342A>C, XM_017009815.2:c.342A>C, XM_017009815.1:c.342A>C, XM_017009816.2:c.342A>C, XM_017009816.1:c.342A>C, NM_001271529.1:c.45A>C, XP_011541920.1:p.Leu114Phe, XP_016865303.1:p.Leu114Phe, NP_001263642.1:p.Leu114Phe, XP_016865304.1:p.Leu114Phe, XP_016865305.1:p.Leu114Phe

Select item 14723031078.

rs1472303107 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:75666904 (GRCh38)
5:74962729 (GRCh37)
Canonical SPDI:: NC_000005.10:75666903:A:G,NC_000005.10:75666903:A:T
Gene:: ANKDD1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.75666904A>G, NC_000005.10:g.75666904A>T, NC_000005.9:g.74962729A>G, NC_000005.9:g.74962729A>T, XM_011543618.3:c.1304A>G, XM_011543618.3:c.1304A>T, XM_011543618.2:c.1304A>G, XM_011543618.2:c.1304A>T, XM_011543618.1:c.1304A>G, XM_011543618.1:c.1304A>T, XM_011543623.3:c.869A>G, XM_011543623.3:c.869A>T, XM_011543623.2:c.869A>G, XM_011543623.2:c.869A>T, XM_011543623.1:c.869A>G, XM_011543623.1:c.869A>T, XM_017009814.2:c.1409A>G, XM_017009814.2:c.1409A>T, XM_017009814.1:c.1409A>G, XM_017009814.1:c.1409A>T, NM_001276713.2:c.1304A>G, NM_001276713.2:c.1304A>T, NM_001276713.1:c.1304A>G, NM_001276713.1:c.1304A>T, XM_017009815.2:c.1409A>G, XM_017009815.2:c.1409A>T, XM_017009815.1:c.1409A>G, XM_017009815.1:c.1409A>T, XM_017009816.2:c.1211A>G, XM_017009816.2:c.1211A>T, XM_017009816.1:c.1211A>G, XM_017009816.1:c.1211A>T, XM_047417686.1:c.656A>G, XM_047417686.1:c.656A>T, NM_001271529.1:c.1106A>G, NM_001271529.1:c.1106A>T, XP_011541920.1:p.His435Arg, XP_011541920.1:p.His435Leu, XP_011541925.1:p.His290Arg, XP_011541925.1:p.His290Leu, XP_016865303.1:p.His470Arg, XP_016865303.1:p.His470Leu, NP_001263642.1:p.His435Arg, NP_001263642.1:p.His435Leu, XP_016865304.1:p.His470Arg, XP_016865304.1:p.His470Leu, XP_016865305.1:p.His404Arg, XP_016865305.1:p.His404Leu, XP_047273642.1:p.His219Arg, XP_047273642.1:p.His219Leu

Select item 14685712329.

rs1468571232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:75656068 (GRCh38)
5:74951893 (GRCh37)
Canonical SPDI:: NC_000005.10:75656067:C:A,NC_000005.10:75656067:C:G
Gene:: ANKDD1B (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.75656068C>A, NC_000005.10:g.75656068C>G, NC_000005.9:g.74951893C>A, NC_000005.9:g.74951893C>G, XM_011543618.3:c.937C>A, XM_011543618.3:c.937C>G, XM_011543618.2:c.937C>A, XM_011543618.2:c.937C>G, XM_011543618.1:c.937C>A, XM_011543618.1:c.937C>G, XM_011543623.3:c.502C>A, XM_011543623.3:c.502C>G, XM_011543623.2:c.502C>A, XM_011543623.2:c.502C>G, XM_011543623.1:c.502C>A, XM_011543623.1:c.502C>G, XM_017009814.2:c.1042C>A, XM_017009814.2:c.1042C>G, XM_017009814.1:c.1042C>A, XM_017009814.1:c.1042C>G, NM_001276713.2:c.937C>A, NM_001276713.2:c.937C>G, NM_001276713.1:c.937C>A, NM_001276713.1:c.937C>G, XM_017009815.2:c.1042C>A, XM_017009815.2:c.1042C>G, XM_017009815.1:c.1042C>A, XM_017009815.1:c.1042C>G, XM_047417686.1:c.289C>A, XM_047417686.1:c.289C>G, NM_001271529.1:c.739C>A, NM_001271529.1:c.739C>G, XP_011541920.1:p.His313Asn, XP_011541920.1:p.His313Asp, XP_011541925.1:p.His168Asn, XP_011541925.1:p.His168Asp, XP_016865303.1:p.His348Asn, XP_016865303.1:p.His348Asp, NP_001263642.1:p.His313Asn, NP_001263642.1:p.His313Asp, XP_016865304.1:p.His348Asn, XP_016865304.1:p.His348Asp, XP_047273642.1:p.His97Asn, XP_047273642.1:p.His97Asp

Select item 146548396210.

rs1465483962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:75656037 (GRCh38)
5:74951862 (GRCh37)
Canonical SPDI:: NC_000005.10:75656036:G:C
Gene:: ANKDD1B (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.75656037G>C, NC_000005.9:g.74951862G>C, XM_011543618.3:c.906G>C, XM_011543618.2:c.906G>C, XM_011543618.1:c.906G>C, XM_011543623.3:c.471G>C, XM_011543623.2:c.471G>C, XM_011543623.1:c.471G>C, XM_017009814.2:c.1011G>C, XM_017009814.1:c.1011G>C, NM_001276713.2:c.906G>C, NM_001276713.1:c.906G>C, XM_017009815.2:c.1011G>C, XM_017009815.1:c.1011G>C, XM_047417686.1:c.258G>C, NM_001271529.1:c.708G>C, XP_011541920.1:p.Glu302Asp, XP_011541925.1:p.Glu157Asp, XP_016865303.1:p.Glu337Asp, NP_001263642.1:p.Glu302Asp, XP_016865304.1:p.Glu337Asp, XP_047273642.1:p.Glu86Asp

Select item 146385960311.

rs1463859603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:75669311 (GRCh38)
5:74965136 (GRCh37)
Canonical SPDI:: NC_000005.10:75669310:C:T
Gene:: ANKDD1B (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.75669311C>T, NC_000005.9:g.74965136C>T, XM_011543623.3:c.1018C>T, XM_011543623.2:c.1018C>T, XM_011543623.1:c.1018C>T, XM_017009814.2:c.1558C>T, XM_017009814.1:c.1558C>T, NM_001276713.2:c.1453C>T, NM_001276713.1:c.1453C>T, XM_017009816.2:c.1360C>T, XM_017009816.1:c.1360C>T, XM_047417686.1:c.805C>T, NM_001271529.1:c.1255C>T

Select item 146167509712.

rs1461675097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:75670979 (GRCh38)
5:74966804 (GRCh37)
Canonical SPDI:: NC_000005.10:75670978:A:G
Gene:: ANKDD1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.75670979A>G, NC_000005.9:g.74966804A>G, XM_011543618.3:c.1394A>G, XM_011543618.2:c.1394A>G, XM_011543618.1:c.1394A>G, XM_011543623.3:c.1091A>G, XM_011543623.2:c.1091A>G, XM_011543623.1:c.1091A>G, XM_017009814.2:c.1631A>G, XM_017009814.1:c.1631A>G, NM_001276713.2:c.1526A>G, NM_001276713.1:c.1526A>G, XM_017009815.2:c.1499A>G, XM_017009815.1:c.1499A>G, XM_017009816.2:c.1433A>G, XM_017009816.1:c.1433A>G, XM_047417686.1:c.878A>G, NM_001271529.1:c.1328A>G, XP_011541920.1:p.Glu465Gly, XP_011541925.1:p.Glu364Gly, XP_016865303.1:p.Glu544Gly, NP_001263642.1:p.Glu509Gly, XP_016865304.1:p.Glu500Gly, XP_016865305.1:p.Glu478Gly, XP_047273642.1:p.Glu293Gly

Select item 146105855213.

rs1461058552 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGA>- [Show Flanks]
Chromosome:: 5:75611799 (GRCh38)
5:74907624 (GRCh37)
Canonical SPDI:: NC_000005.10:75611793:GAGGAGGA:GAGGA
Gene:: ANKDD1B (Varview)
Functional Consequence:: inframe_deletion,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.75611796GGA[1], NC_000005.9:g.74907621GGA[1], XM_011543618.3:c.162GGA[1], XM_011543618.2:c.162GGA[1], XM_011543618.1:c.162GGA[1], XM_011543623.3:c.162GGA[1], XM_011543623.2:c.162GGA[1], XM_011543623.1:c.162GGA[1], XM_017009814.2:c.162GGA[1], XM_017009814.1:c.162GGA[1], NM_001276713.2:c.162GGA[1], NM_001276713.1:c.162GGA[1], XM_017009815.2:c.162GGA[1], XM_017009815.1:c.162GGA[1], XM_017009816.2:c.162GGA[1], XM_017009816.1:c.162GGA[1], XM_047417686.1:c.-80GGA[1], XP_011541920.1:p.Glu55del, XP_011541925.1:p.Glu55del, XP_016865303.1:p.Glu55del, NP_001263642.1:p.Glu55del, XP_016865304.1:p.Glu55del, XP_016865305.1:p.Glu55del

Select item 146105219814.

rs1461052198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:75669287 (GRCh38)
5:74965112 (GRCh37)
Canonical SPDI:: NC_000005.10:75669286:C:T
Gene:: ANKDD1B (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.75669287C>T, NC_000005.9:g.74965112C>T, XM_011543623.3:c.994C>T, XM_011543623.2:c.994C>T, XM_011543623.1:c.994C>T, XM_017009814.2:c.1534C>T, XM_017009814.1:c.1534C>T, NM_001276713.2:c.1429C>T, NM_001276713.1:c.1429C>T, XM_017009816.2:c.1336C>T, XM_017009816.1:c.1336C>T, XM_047417686.1:c.781C>T, NM_001271529.1:c.1231C>T

Select item 146070103115.

rs1460701031 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:75663436 (GRCh38)
5:74959261 (GRCh37)
Canonical SPDI:: NC_000005.10:75663435:A:C
Gene:: ANKDD1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.75663436A>C, NC_000005.9:g.74959261A>C, NG_083739.1:g.168A>C, XM_011543618.3:c.1138A>C, XM_011543618.2:c.1138A>C, XM_011543618.1:c.1138A>C, XM_011543623.3:c.703A>C, XM_011543623.2:c.703A>C, XM_011543623.1:c.703A>C, XM_017009814.2:c.1243A>C, XM_017009814.1:c.1243A>C, NM_001276713.2:c.1138A>C, NM_001276713.1:c.1138A>C, XM_017009815.2:c.1243A>C, XM_017009815.1:c.1243A>C, XM_017009816.2:c.1045A>C, XM_017009816.1:c.1045A>C, XM_047417686.1:c.490A>C, NM_001271529.1:c.940A>C, XP_011541920.1:p.Ser380Arg, XP_011541925.1:p.Ser235Arg, XP_016865303.1:p.Ser415Arg, NP_001263642.1:p.Ser380Arg, XP_016865304.1:p.Ser415Arg, XP_016865305.1:p.Ser349Arg, XP_047273642.1:p.Ser164Arg

Select item 145966655516.

rs1459666555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:75635797 (GRCh38)
5:74931622 (GRCh37)
Canonical SPDI:: NC_000005.10:75635796:C:T
Gene:: ANKDD1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.75635797C>T, NC_000005.9:g.74931622C>T, XM_011543618.3:c.713C>T, XM_011543618.2:c.713C>T, XM_011543618.1:c.713C>T, XM_011543623.3:c.278C>T, XM_011543623.2:c.278C>T, XM_011543623.1:c.278C>T, XM_017009814.2:c.818C>T, XM_017009814.1:c.818C>T, NM_001276713.2:c.713C>T, NM_001276713.1:c.713C>T, XM_017009815.2:c.818C>T, XM_017009815.1:c.818C>T, XM_017009816.2:c.818C>T, XM_017009816.1:c.818C>T, XM_047417686.1:c.65C>T, NM_001271529.1:c.416C>T, XP_011541920.1:p.Ala238Val, XP_011541925.1:p.Ala93Val, XP_016865303.1:p.Ala273Val, NP_001263642.1:p.Ala238Val, XP_016865304.1:p.Ala273Val, XP_016865305.1:p.Ala273Val, XP_047273642.1:p.Ala22Val

Select item 145902851717.

rs1459028517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:75625922 (GRCh38)
5:74921747 (GRCh37)
Canonical SPDI:: NC_000005.10:75625921:T:A
Gene:: ANKDD1B (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.75625922T>A, NC_000005.9:g.74921747T>A, XM_011543618.3:c.567T>A, XM_011543618.2:c.567T>A, XM_011543618.1:c.567T>A, XM_017009814.2:c.672T>A, XM_017009814.1:c.672T>A, NM_001276713.2:c.567T>A, NM_001276713.1:c.567T>A, XM_017009815.2:c.672T>A, XM_017009815.1:c.672T>A, XM_017009816.2:c.672T>A, XM_017009816.1:c.672T>A, NM_001271529.1:c.270T>A, XP_011541920.1:p.Asp189Glu, XP_016865303.1:p.Asp224Glu, NP_001263642.1:p.Asp189Glu, XP_016865304.1:p.Asp224Glu, XP_016865305.1:p.Asp224Glu

Select item 145846003018.

rs1458460030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:75663478 (GRCh38)
5:74959303 (GRCh37)
Canonical SPDI:: NC_000005.10:75663477:G:A,NC_000005.10:75663477:G:T
Gene:: ANKDD1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000005.10:g.75663478G>A, NC_000005.10:g.75663478G>T, NC_000005.9:g.74959303G>A, NC_000005.9:g.74959303G>T, NG_083739.1:g.210G>A, NG_083739.1:g.210G>T, XM_011543618.3:c.1180G>A, XM_011543618.3:c.1180G>T, XM_011543618.2:c.1180G>A, XM_011543618.2:c.1180G>T, XM_011543618.1:c.1180G>A, XM_011543618.1:c.1180G>T, XM_011543623.3:c.745G>A, XM_011543623.3:c.745G>T, XM_011543623.2:c.745G>A, XM_011543623.2:c.745G>T, XM_011543623.1:c.745G>A, XM_011543623.1:c.745G>T, XM_017009814.2:c.1285G>A, XM_017009814.2:c.1285G>T, XM_017009814.1:c.1285G>A, XM_017009814.1:c.1285G>T, NM_001276713.2:c.1180G>A, NM_001276713.2:c.1180G>T, NM_001276713.1:c.1180G>A, NM_001276713.1:c.1180G>T, XM_017009815.2:c.1285G>A, XM_017009815.2:c.1285G>T, XM_017009815.1:c.1285G>A, XM_017009815.1:c.1285G>T, XM_017009816.2:c.1087G>A, XM_017009816.2:c.1087G>T, XM_017009816.1:c.1087G>A, XM_017009816.1:c.1087G>T, XM_047417686.1:c.532G>A, XM_047417686.1:c.532G>T, NM_001271529.1:c.982G>A, NM_001271529.1:c.982G>T, XP_011541920.1:p.Ala394Thr, XP_011541920.1:p.Ala394Ser, XP_011541925.1:p.Ala249Thr, XP_011541925.1:p.Ala249Ser, XP_016865303.1:p.Ala429Thr, XP_016865303.1:p.Ala429Ser, NP_001263642.1:p.Ala394Thr, NP_001263642.1:p.Ala394Ser, XP_016865304.1:p.Ala429Thr, XP_016865304.1:p.Ala429Ser, XP_016865305.1:p.Ala363Thr, XP_016865305.1:p.Ala363Ser, XP_047273642.1:p.Ala178Thr, XP_047273642.1:p.Ala178Ser

Select item 145843256919.

rs1458432569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:75656078 (GRCh38)
5:74951903 (GRCh37)
Canonical SPDI:: NC_000005.10:75656077:T:C
Gene:: ANKDD1B (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD_exomes)
C=0.000684/2 (KOREAN)
HGVS:: NC_000005.10:g.75656078T>C, NC_000005.9:g.74951903T>C, XM_011543618.3:c.947T>C, XM_011543618.2:c.947T>C, XM_011543618.1:c.947T>C, XM_011543623.3:c.512T>C, XM_011543623.2:c.512T>C, XM_011543623.1:c.512T>C, XM_017009814.2:c.1052T>C, XM_017009814.1:c.1052T>C, NM_001276713.2:c.947T>C, NM_001276713.1:c.947T>C, XM_017009815.2:c.1052T>C, XM_017009815.1:c.1052T>C, XM_047417686.1:c.299T>C, NM_001271529.1:c.749T>C, XP_011541920.1:p.Val316Ala, XP_011541925.1:p.Val171Ala, XP_016865303.1:p.Val351Ala, NP_001263642.1:p.Val316Ala, XP_016865304.1:p.Val351Ala, XP_047273642.1:p.Val100Ala

Select item 145743691920.

rs1457436919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:75669352 (GRCh38)
5:74965177 (GRCh37)
Canonical SPDI:: NC_000005.10:75669351:G:A
Gene:: ANKDD1B (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.75669352G>A, NC_000005.9:g.74965177G>A, XM_011543623.3:c.1059G>A, XM_011543623.2:c.1059G>A, XM_011543623.1:c.1059G>A, XM_017009814.2:c.1599G>A, XM_017009814.1:c.1599G>A, NM_001276713.2:c.1494G>A, NM_001276713.1:c.1494G>A, XM_017009816.2:c.1401G>A, XM_017009816.1:c.1401G>A, XM_047417686.1:c.846G>A, NM_001271529.1:c.1296G>A

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Items: 1 to 20 of 478

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