SNP Links for Protein (Select 316983160) - SNP

Links from Protein

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Select item 14909250371.

rs1490925037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:206144076 (GRCh38)
2:207008800 (GRCh37)
Canonical SPDI:: NC_000002.12:206144075:T:C
Gene:: NDUFS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.206144076T>C, NC_000002.11:g.207008800T>C, NG_009248.1:g.20388A>G, NM_005006.6:c.929A>G, NM_005006.7:c.929A>G, NM_001199984.1:c.971A>G, NM_001199984.2:c.971A>G, NW_015495299.1:g.253094T>C, NM_001199981.2:c.821A>G, NM_001199981.1:c.821A>G, NM_001199982.2:c.596A>G, NM_001199982.1:c.596A>G, NM_001199983.2:c.758A>G, NM_001199983.1:c.758A>G, NP_004997.4:p.Glu310Gly, NP_001186913.1:p.Glu324Gly, NP_001186910.1:p.Glu274Gly, NP_001186911.1:p.Glu199Gly, NP_001186912.1:p.Glu253Gly

Select item 14894790482.

rs1489479048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:206152424 (GRCh38)
2:207017148 (GRCh37)
Canonical SPDI:: NC_000002.12:206152423:G:A
Gene:: NDUFS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206152424G>A, NC_000002.11:g.207017148G>A, NG_009248.1:g.12040C>T, NM_005006.6:c.148C>T, NM_005006.7:c.148C>T, NM_001199984.1:c.190C>T, NM_001199984.2:c.190C>T, NW_015495299.1:g.261442G>A, NM_001199981.2:c.148C>T, NM_001199981.1:c.148C>T, NP_004997.4:p.Leu50Phe, NP_001186913.1:p.Leu64Phe, NP_001186910.1:p.Leu50Phe

Select item 14889518443.

rs1488951844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:206147066 (GRCh38)
2:207011790 (GRCh37)
Canonical SPDI:: NC_000002.12:206147065:C:T
Gene:: NDUFS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206147066C>T, NC_000002.11:g.207011790C>T, NG_009248.1:g.17398G>A, NM_005006.6:c.574G>A, NM_005006.7:c.574G>A, NM_001199984.1:c.616G>A, NM_001199984.2:c.616G>A, NW_015495299.1:g.256084C>T, NM_001199981.2:c.466G>A, NM_001199981.1:c.466G>A, NM_001199982.2:c.241G>A, NM_001199982.1:c.241G>A, NM_001199983.2:c.403G>A, NM_001199983.1:c.403G>A, NP_004997.4:p.Val192Ile, NP_001186913.1:p.Val206Ile, NP_001186910.1:p.Val156Ile, NP_001186911.1:p.Val81Ile, NP_001186912.1:p.Val135Ile

Select item 14876202624.

rs1487620262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:206152437 (GRCh38)
2:207017161 (GRCh37)
Canonical SPDI:: NC_000002.12:206152436:C:T
Gene:: NDUFS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206152437C>T, NC_000002.11:g.207017161C>T, NG_009248.1:g.12027G>A, NM_005006.6:c.135G>A, NM_005006.7:c.135G>A, NM_001199984.1:c.177G>A, NM_001199984.2:c.177G>A, NW_015495299.1:g.261455C>T, NM_001199981.2:c.135G>A, NM_001199981.1:c.135G>A

Select item 14867833025.

rs1486783302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:206152465 (GRCh38)
2:207017189 (GRCh37)
Canonical SPDI:: NC_000002.12:206152464:A:G
Gene:: NDUFS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.206152465A>G, NC_000002.11:g.207017189A>G, NG_009248.1:g.11999T>C, NM_005006.6:c.107T>C, NM_005006.7:c.107T>C, NM_001199984.1:c.149T>C, NM_001199984.2:c.149T>C, NW_015495299.1:g.261483A>G, NM_001199981.2:c.107T>C, NM_001199981.1:c.107T>C, NP_004997.4:p.Val36Ala, NP_001186913.1:p.Val50Ala, NP_001186910.1:p.Val36Ala

Select item 14850322726.

rs1485032272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:206144919 (GRCh38)
2:207009643 (GRCh37)
Canonical SPDI:: NC_000002.12:206144918:T:A,NC_000002.12:206144918:T:C
Gene:: NDUFS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.206144919T>A, NC_000002.12:g.206144919T>C, NC_000002.11:g.207009643T>A, NC_000002.11:g.207009643T>C, NG_009248.1:g.19545A>T, NG_009248.1:g.19545A>G, NM_005006.6:c.845A>T, NM_005006.6:c.845A>G, NM_005006.7:c.845A>T, NM_005006.7:c.845A>G, NM_001199984.1:c.887A>T, NM_001199984.1:c.887A>G, NM_001199984.2:c.887A>T, NM_001199984.2:c.887A>G, NW_015495299.1:g.253937T>A, NW_015495299.1:g.253937T>C, NM_001199981.2:c.737A>T, NM_001199981.2:c.737A>G, NM_001199981.1:c.737A>T, NM_001199981.1:c.737A>G, NM_001199982.2:c.512A>T, NM_001199982.2:c.512A>G, NM_001199982.1:c.512A>T, NM_001199982.1:c.512A>G, NM_001199983.2:c.674A>T, NM_001199983.2:c.674A>G, NM_001199983.1:c.674A>T, NM_001199983.1:c.674A>G, NP_004997.4:p.Asn282Ile, NP_004997.4:p.Asn282Ser, NP_001186913.1:p.Asn296Ile, NP_001186913.1:p.Asn296Ser, NP_001186910.1:p.Asn246Ile, NP_001186910.1:p.Asn246Ser, NP_001186911.1:p.Asn171Ile, NP_001186911.1:p.Asn171Ser, NP_001186912.1:p.Asn225Ile, NP_001186912.1:p.Asn225Ser

Select item 14846487437.

rs1484648743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:206147628 (GRCh38)
2:207012352 (GRCh37)
Canonical SPDI:: NC_000002.12:206147627:G:A
Gene:: NDUFS1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.206147628G>A, NC_000002.11:g.207012352G>A, NG_009248.1:g.16836C>T, NM_005006.6:c.454C>T, NM_005006.7:c.454C>T, NM_001199984.1:c.496C>T, NM_001199984.2:c.496C>T, NW_015495299.1:g.256646G>A, NM_001199981.2:c.346C>T, NM_001199981.1:c.346C>T, NM_001199982.2:c.121C>T, NM_001199982.1:c.121C>T, NM_001199983.2:c.283C>T, NM_001199983.1:c.283C>T, NP_004997.4:p.Arg152Ter, NP_001186913.1:p.Arg166Ter, NP_001186910.1:p.Arg116Ter, NP_001186911.1:p.Arg41Ter, NP_001186912.1:p.Arg95Ter

Select item 14830582098.

rs1483058209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:206141969 (GRCh38)
2:207006693 (GRCh37)
Canonical SPDI:: NC_000002.12:206141968:G:A
Gene:: NDUFS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206141969G>A, NC_000002.11:g.207006693G>A, NG_009248.1:g.22495C>T, NM_005006.6:c.1234C>T, NM_005006.7:c.1234C>T, NM_001199984.1:c.1276C>T, NM_001199984.2:c.1276C>T, NW_015495299.1:g.250987G>A, NM_001199981.2:c.1126C>T, NM_001199981.1:c.1126C>T, NM_001199982.2:c.901C>T, NM_001199982.1:c.901C>T, NM_001199983.2:c.1063C>T, NM_001199983.1:c.1063C>T, NP_004997.4:p.Pro412Ser, NP_001186913.1:p.Pro426Ser, NP_001186910.1:p.Pro376Ser, NP_001186911.1:p.Pro301Ser, NP_001186912.1:p.Pro355Ser

Select item 14824077379.

rs1482407737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:206138494 (GRCh38)
2:207003218 (GRCh37)
Canonical SPDI:: NC_000002.12:206138493:T:A
Gene:: NDUFS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206138494T>A, NC_000002.11:g.207003218T>A, NG_009248.1:g.25970A>T, NM_005006.6:c.1383A>T, NM_005006.7:c.1383A>T, NM_001199984.1:c.1425A>T, NM_001199984.2:c.1425A>T, NW_015495299.1:g.247512T>A, NM_001199981.2:c.1275A>T, NM_001199981.1:c.1275A>T, NM_001199982.2:c.1050A>T, NM_001199982.1:c.1050A>T, NM_001199983.2:c.1212A>T, NM_001199983.1:c.1212A>T

Select item 148196414010.

rs1481964140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:206144991 (GRCh38)
2:207009715 (GRCh37)
Canonical SPDI:: NC_000002.12:206144990:C:T
Gene:: NDUFS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.206144991C>T, NC_000002.11:g.207009715C>T, NG_009248.1:g.19473G>A, NM_005006.6:c.773G>A, NM_005006.7:c.773G>A, NM_001199984.1:c.815G>A, NM_001199984.2:c.815G>A, NW_015495299.1:g.254009C>T, NM_001199981.2:c.665G>A, NM_001199981.1:c.665G>A, NM_001199982.2:c.440G>A, NM_001199982.1:c.440G>A, NM_001199983.2:c.602G>A, NM_001199983.1:c.602G>A, NP_004997.4:p.Gly258Glu, NP_001186913.1:p.Gly272Glu, NP_001186910.1:p.Gly222Glu, NP_001186911.1:p.Gly147Glu, NP_001186912.1:p.Gly201Glu

Select item 148026347711.

rs1480263477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:206144069 (GRCh38)
2:207008793 (GRCh37)
Canonical SPDI:: NC_000002.12:206144068:C:T
Gene:: NDUFS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206144069C>T, NC_000002.11:g.207008793C>T, NG_009248.1:g.20395G>A, NM_005006.6:c.936G>A, NM_005006.7:c.936G>A, NM_001199984.1:c.978G>A, NM_001199984.2:c.978G>A, NW_015495299.1:g.253087C>T, NM_001199981.2:c.828G>A, NM_001199981.1:c.828G>A, NM_001199982.2:c.603G>A, NM_001199982.1:c.603G>A, NM_001199983.2:c.765G>A, NM_001199983.1:c.765G>A

Select item 147807379912.

rs1478073799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:206149048 (GRCh38)
2:207013772 (GRCh37)
Canonical SPDI:: NC_000002.12:206149047:T:C
Gene:: NDUFS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.206149048T>C, NC_000002.11:g.207013772T>C, NG_009248.1:g.15416A>G, NM_005006.6:c.310A>G, NM_005006.7:c.310A>G, NM_001199984.1:c.352A>G, NM_001199984.2:c.352A>G, NW_015495299.1:g.258066T>C, NM_001199981.2:c.202A>G, NM_001199981.1:c.202A>G, NM_001199983.2:c.139A>G, NM_001199983.1:c.139A>G, NP_004997.4:p.Thr104Ala, NP_001186913.1:p.Thr118Ala, NP_001186910.1:p.Thr68Ala, NP_001186912.1:p.Thr47Ala

Select item 147712537913.

rs1477125379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:206127847 (GRCh38)
2:206992571 (GRCh37)
Canonical SPDI:: NC_000002.12:206127846:G:A
Gene:: NDUFS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.206127847G>A, NC_000002.11:g.206992571G>A, NG_009248.1:g.36617C>T, NM_005006.6:c.1834C>T, NM_005006.7:c.1834C>T, NM_001199984.1:c.1876C>T, NM_001199984.2:c.1876C>T, NW_015495299.1:g.236865G>A, NM_001199981.2:c.1726C>T, NM_001199981.1:c.1726C>T, NM_001199982.2:c.1501C>T, NM_001199982.1:c.1501C>T, NM_001199983.2:c.1663C>T, NM_001199983.1:c.1663C>T, NP_004997.4:p.Pro612Ser, NP_001186913.1:p.Pro626Ser, NP_001186910.1:p.Pro576Ser, NP_001186911.1:p.Pro501Ser, NP_001186912.1:p.Pro555Ser

Select item 147620231114.

rs1476202311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:206133008 (GRCh38)
2:206997732 (GRCh37)
Canonical SPDI:: NC_000002.12:206133007:G:C
Gene:: NDUFS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206133008G>C, NC_000002.11:g.206997732G>C, NG_009248.1:g.31456C>G, NM_005006.6:c.1490C>G, NM_005006.7:c.1490C>G, NM_001199984.1:c.1532C>G, NM_001199984.2:c.1532C>G, NW_015495299.1:g.242026G>C, NM_001199981.2:c.1382C>G, NM_001199981.1:c.1382C>G, NM_001199982.2:c.1157C>G, NM_001199982.1:c.1157C>G, NM_001199983.2:c.1319C>G, NM_001199983.1:c.1319C>G, NP_004997.4:p.Ala497Gly, NP_001186913.1:p.Ala511Gly, NP_001186910.1:p.Ala461Gly, NP_001186911.1:p.Ala386Gly, NP_001186912.1:p.Ala440Gly

Select item 147607033715.

rs1476070337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:206142755 (GRCh38)
2:207007479 (GRCh37)
Canonical SPDI:: NC_000002.12:206142754:T:C
Gene:: NDUFS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206142755T>C, NC_000002.11:g.207007479T>C, NG_009248.1:g.21709A>G, NM_005006.6:c.1064A>G, NM_005006.7:c.1064A>G, NM_001199984.1:c.1106A>G, NM_001199984.2:c.1106A>G, NW_015495299.1:g.251773T>C, NM_001199981.2:c.956A>G, NM_001199981.1:c.956A>G, NM_001199982.2:c.731A>G, NM_001199982.1:c.731A>G, NM_001199983.2:c.893A>G, NM_001199983.1:c.893A>G, NP_004997.4:p.Lys355Arg, NP_001186913.1:p.Lys369Arg, NP_001186910.1:p.Lys319Arg, NP_001186911.1:p.Lys244Arg, NP_001186912.1:p.Lys298Arg

Select item 147554294216.

rs1475542942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:206130152 (GRCh38)
2:206994876 (GRCh37)
Canonical SPDI:: NC_000002.12:206130151:C:A
Gene:: NDUFS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000085/3 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.206130152C>A, NC_000002.11:g.206994876C>A, NG_009248.1:g.34312G>T, NM_005006.6:c.1644G>T, NM_005006.7:c.1644G>T, NM_001199984.1:c.1686G>T, NM_001199984.2:c.1686G>T, NW_015495299.1:g.239170C>A, NM_001199981.2:c.1536G>T, NM_001199981.1:c.1536G>T, NM_001199982.2:c.1311G>T, NM_001199982.1:c.1311G>T, NM_001199983.2:c.1473G>T, NM_001199983.1:c.1473G>T

Select item 147390667917.

rs1473906679 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:206133092 (GRCh38)
2:206997816 (GRCh37)
Canonical SPDI:: NC_000002.12:206133091:G:A
Gene:: NDUFS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206133092G>A, NC_000002.11:g.206997816G>A, NG_009248.1:g.31372C>T, NM_005006.6:c.1406C>T, NM_005006.7:c.1406C>T, NM_001199984.1:c.1448C>T, NM_001199984.2:c.1448C>T, NW_015495299.1:g.242110G>A, NM_001199981.2:c.1298C>T, NM_001199981.1:c.1298C>T, NM_001199982.2:c.1073C>T, NM_001199982.1:c.1073C>T, NM_001199983.2:c.1235C>T, NM_001199983.1:c.1235C>T, NP_004997.4:p.Ala469Val, NP_001186913.1:p.Ala483Val, NP_001186910.1:p.Ala433Val, NP_001186911.1:p.Ala358Val, NP_001186912.1:p.Ala412Val

Select item 147013498018.

rs1470134980 [Homo sapiens]

Variant type:: DEL
Alleles:: GAAAGGCCT>- [Show Flanks]
Chromosome:: 2:206153638 (GRCh38)
2:207018362 (GRCh37)
Canonical SPDI:: NC_000002.12:206153637:GAAAGGCCT:
Gene:: NDUFS1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,inframe_deletion
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.206153638_206153646del, NC_000002.11:g.207018362_207018370del, NG_009248.1:g.10818_10826del, NM_005006.6:c.33_41del, NM_005006.7:c.33_41del, NM_001199984.1:c.75_83del, NM_001199984.2:c.75_83del, NW_015495299.1:g.262656_262664del, NM_001199981.2:c.33_41del, NM_001199981.1:c.33_41del, NM_001199982.2:c.-24_-16del, NM_001199982.1:c.-24_-16del, NM_001199983.2:c.-47_-39del, NM_001199983.1:c.-47_-39del, NP_004997.4:p.Gly12_Ser14del, NP_001186913.1:p.Gly26_Ser28del, NP_001186910.1:p.Gly12_Ser14del

Select item 146882546219.

rs1468825462 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:206142772 (GRCh38)
2:207007496 (GRCh37)
Canonical SPDI:: NC_000002.12:206142771:T:G
Gene:: NDUFS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.206142772T>G, NC_000002.11:g.207007496T>G, NG_009248.1:g.21692A>C, NM_005006.6:c.1047A>C, NM_005006.7:c.1047A>C, NM_001199984.1:c.1089A>C, NM_001199984.2:c.1089A>C, NW_015495299.1:g.251790T>G, NM_001199981.2:c.939A>C, NM_001199981.1:c.939A>C, NM_001199982.2:c.714A>C, NM_001199982.1:c.714A>C, NM_001199983.2:c.876A>C, NM_001199983.1:c.876A>C, NP_004997.4:p.Glu349Asp, NP_001186913.1:p.Glu363Asp, NP_001186910.1:p.Glu313Asp, NP_001186911.1:p.Glu238Asp, NP_001186912.1:p.Glu292Asp

Select item 146774102220.

rs1467741022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:206146936 (GRCh38)
2:207011660 (GRCh37)
Canonical SPDI:: NC_000002.12:206146935:G:C
Gene:: NDUFS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.206146936G>C, NC_000002.11:g.207011660G>C, NG_009248.1:g.17528C>G, NM_005006.6:c.704C>G, NM_005006.7:c.704C>G, NM_001199984.1:c.746C>G, NM_001199984.2:c.746C>G, NW_015495299.1:g.255954G>C, NM_001199981.2:c.596C>G, NM_001199981.1:c.596C>G, NM_001199982.2:c.371C>G, NM_001199982.1:c.371C>G, NM_001199983.2:c.533C>G, NM_001199983.1:c.533C>G, NP_004997.4:p.Pro235Arg, NP_001186913.1:p.Pro249Arg, NP_001186910.1:p.Pro199Arg, NP_001186911.1:p.Pro124Arg, NP_001186912.1:p.Pro178Arg

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