SNP Links for Protein (Select 51479132) - SNP

Links from Protein

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Select item 14541534171.

rs1454153417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99466138 (GRCh38)
7:99063761 (GRCh37)
Canonical SPDI:: NC_000007.14:99466137:C:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.99466138C>T, NC_000007.13:g.99063761C>T, NM_004889.5:c.4G>A, NM_004889.4:c.4G>A, NM_004889.3:c.4G>A, NM_001003713.4:c.4G>A, NM_001003713.3:c.4G>A, NM_001003713.2:c.4G>A, NM_001003714.4:c.4G>A, NM_001003714.3:c.4G>A, NM_001003714.2:c.4G>A, NM_001039178.4:c.4G>A, NM_001039178.3:c.4G>A, NM_001039178.2:c.4G>A, NM_001198879.2:c.4G>A, NM_001198879.1:c.4G>A, NM_001190353.1:c.4G>A, NM_001190354.1:c.4G>A, NP_004880.1:p.Ala2Thr, NP_001003713.1:p.Ala2Thr, NP_001003714.1:p.Ala2Thr, NP_001034267.1:p.Ala2Thr, NP_001185808.1:p.Ala2Thr

Select item 14096803772.

rs1409680377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99460186 (GRCh38)
7:99057809 (GRCh37)
Canonical SPDI:: NC_000007.14:99460185:C:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (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_000007.14:g.99460186C>T, NC_000007.13:g.99057809C>T, NM_004889.5:c.39G>A, NM_004889.4:c.39G>A, NM_004889.3:c.39G>A, NM_001003713.4:c.21G>A, NM_001003713.3:c.21G>A, NM_001003713.2:c.21G>A, NM_001003714.4:c.39G>A, NM_001003714.3:c.39G>A, NM_001003714.2:c.39G>A, NM_001039178.4:c.21G>A, NM_001039178.3:c.21G>A, NM_001039178.2:c.21G>A, NM_001198879.2:c.21G>A, NM_001198879.1:c.21G>A, NM_001190353.1:c.39G>A, NM_001190354.1:c.21G>A

Select item 13857185153.

rs1385718515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99460112 (GRCh38)
7:99057735 (GRCh37)
Canonical SPDI:: NC_000007.14:99460111:C:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99460112C>T, NC_000007.13:g.99057735C>T, NM_004889.5:c.113G>A, NM_004889.4:c.113G>A, NM_004889.3:c.113G>A, NM_001003713.4:c.95G>A, NM_001003713.3:c.95G>A, NM_001003713.2:c.95G>A, NM_001003714.4:c.113G>A, NM_001003714.3:c.113G>A, NM_001003714.2:c.113G>A, NM_001039178.4:c.95G>A, NM_001039178.3:c.95G>A, NM_001039178.2:c.95G>A, NM_001198879.2:c.95G>A, NM_001198879.1:c.95G>A, NM_001190353.1:c.113G>A, NM_001190354.1:c.95G>A, NP_004880.1:p.Ser38Asn, NP_001003713.1:p.Ser32Asn, NP_001003714.1:p.Ser38Asn, NP_001034267.1:p.Ser32Asn, NP_001185808.1:p.Ser32Asn

Select item 13645863784.

rs1364586378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99458342 (GRCh38)
7:99055965 (GRCh37)
Canonical SPDI:: NC_000007.14:99458341:G:A
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.99458342G>A, NC_000007.13:g.99055965G>A, NM_004889.5:c.270C>T, NM_004889.4:c.270C>T, NM_004889.3:c.270C>T, NM_001003713.4:c.252C>T, NM_001003713.3:c.252C>T, NM_001003713.2:c.252C>T, NM_001003714.4:c.153C>T, NM_001003714.3:c.153C>T, NM_001003714.2:c.153C>T, NM_001039178.4:c.135C>T, NM_001039178.3:c.135C>T, NM_001039178.2:c.135C>T

Select item 13201219235.

rs1320121923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:99460149 (GRCh38)
7:99057772 (GRCh37)
Canonical SPDI:: NC_000007.14:99460148:G:C,NC_000007.14:99460148:G:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99460149G>C, NC_000007.14:g.99460149G>T, NC_000007.13:g.99057772G>C, NC_000007.13:g.99057772G>T, NM_004889.5:c.76C>G, NM_004889.5:c.76C>A, NM_004889.4:c.76C>G, NM_004889.4:c.76C>A, NM_004889.3:c.76C>G, NM_004889.3:c.76C>A, NM_001003713.4:c.58C>G, NM_001003713.4:c.58C>A, NM_001003713.3:c.58C>G, NM_001003713.3:c.58C>A, NM_001003713.2:c.58C>G, NM_001003713.2:c.58C>A, NM_001003714.4:c.76C>G, NM_001003714.4:c.76C>A, NM_001003714.3:c.76C>G, NM_001003714.3:c.76C>A, NM_001003714.2:c.76C>G, NM_001003714.2:c.76C>A, NM_001039178.4:c.58C>G, NM_001039178.4:c.58C>A, NM_001039178.3:c.58C>G, NM_001039178.3:c.58C>A, NM_001039178.2:c.58C>G, NM_001039178.2:c.58C>A, NM_001198879.2:c.58C>G, NM_001198879.2:c.58C>A, NM_001198879.1:c.58C>G, NM_001198879.1:c.58C>A, NM_001190353.1:c.76C>G, NM_001190353.1:c.76C>A, NM_001190354.1:c.58C>G, NM_001190354.1:c.58C>A, NP_004880.1:p.Leu26Val, NP_004880.1:p.Leu26Met, NP_001003713.1:p.Leu20Val, NP_001003713.1:p.Leu20Met, NP_001003714.1:p.Leu26Val, NP_001003714.1:p.Leu26Met, NP_001034267.1:p.Leu20Val, NP_001034267.1:p.Leu20Met, NP_001185808.1:p.Leu20Val, NP_001185808.1:p.Leu20Met

Select item 13183693876.

rs1318369387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99460182 (GRCh38)
7:99057805 (GRCh37)
Canonical SPDI:: NC_000007.14:99460181:C:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99460182C>T, NC_000007.13:g.99057805C>T, NM_004889.5:c.43G>A, NM_004889.4:c.43G>A, NM_004889.3:c.43G>A, NM_001003713.4:c.25G>A, NM_001003713.3:c.25G>A, NM_001003713.2:c.25G>A, NM_001003714.4:c.43G>A, NM_001003714.3:c.43G>A, NM_001003714.2:c.43G>A, NM_001039178.4:c.25G>A, NM_001039178.3:c.25G>A, NM_001039178.2:c.25G>A, NM_001198879.2:c.25G>A, NM_001198879.1:c.25G>A, NM_001190353.1:c.43G>A, NM_001190354.1:c.25G>A, NP_004880.1:p.Asp15Asn, NP_001003713.1:p.Asp9Asn, NP_001003714.1:p.Asp15Asn, NP_001034267.1:p.Asp9Asn, NP_001185808.1:p.Asp9Asn

Select item 12954583787.

rs1295458378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99458341 (GRCh38)
7:99055964 (GRCh37)
Canonical SPDI:: NC_000007.14:99458340:G:A
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/3 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000007.14:g.99458341G>A, NC_000007.13:g.99055964G>A, NM_004889.5:c.271C>T, NM_004889.4:c.271C>T, NM_004889.3:c.271C>T, NM_001003713.4:c.253C>T, NM_001003713.3:c.253C>T, NM_001003713.2:c.253C>T, NM_001003714.4:c.154C>T, NM_001003714.3:c.154C>T, NM_001003714.2:c.154C>T, NM_001039178.4:c.136C>T, NM_001039178.3:c.136C>T, NM_001039178.2:c.136C>T, NP_004880.1:p.Arg91Cys, NP_001003713.1:p.Arg85Cys, NP_001003714.1:p.Arg52Cys, NP_001034267.1:p.Arg46Cys

Select item 12896630368.

rs1289663036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99460154 (GRCh38)
7:99057777 (GRCh37)
Canonical SPDI:: NC_000007.14:99460153:C:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99460154C>T, NC_000007.13:g.99057777C>T, NM_004889.5:c.71G>A, NM_004889.4:c.71G>A, NM_004889.3:c.71G>A, NM_001003713.4:c.53G>A, NM_001003713.3:c.53G>A, NM_001003713.2:c.53G>A, NM_001003714.4:c.71G>A, NM_001003714.3:c.71G>A, NM_001003714.2:c.71G>A, NM_001039178.4:c.53G>A, NM_001039178.3:c.53G>A, NM_001039178.2:c.53G>A, NM_001198879.2:c.53G>A, NM_001198879.1:c.53G>A, NM_001190353.1:c.71G>A, NM_001190354.1:c.53G>A, NP_004880.1:p.Gly24Glu, NP_001003713.1:p.Gly18Glu, NP_001003714.1:p.Gly24Glu, NP_001034267.1:p.Gly18Glu, NP_001185808.1:p.Gly18Glu

Select item 12545517149.

rs1254551714 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99460098 (GRCh38)
7:99057721 (GRCh37)
Canonical SPDI:: NC_000007.14:99460097:C:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99460098C>T, NC_000007.13:g.99057721C>T, NM_004889.5:c.127G>A, NM_004889.4:c.127G>A, NM_004889.3:c.127G>A, NM_001003713.4:c.109G>A, NM_001003713.3:c.109G>A, NM_001003713.2:c.109G>A, NM_001003714.4:c.127G>A, NM_001003714.3:c.127G>A, NM_001003714.2:c.127G>A, NM_001039178.4:c.109G>A, NM_001039178.3:c.109G>A, NM_001039178.2:c.109G>A, NM_001198879.2:c.109G>A, NM_001198879.1:c.109G>A, NM_001190353.1:c.127G>A, NM_001190354.1:c.109G>A, NP_004880.1:p.Ala43Thr, NP_001003713.1:p.Ala37Thr, NP_001003714.1:p.Ala43Thr, NP_001034267.1:p.Ala37Thr, NP_001185808.1:p.Ala37Thr

Select item 122805244210.

rs1228052442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:99466119 (GRCh38)
7:99063742 (GRCh37)
Canonical SPDI:: NC_000007.14:99466118:G:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.99466119G>T, NC_000007.13:g.99063742G>T, NM_004889.5:c.23C>A, NM_004889.4:c.23C>A, NM_004889.3:c.23C>A, NM_001003714.4:c.23C>A, NM_001003714.3:c.23C>A, NM_001003714.2:c.23C>A, NM_001190353.1:c.23C>A, NP_004880.1:p.Pro8Gln, NP_001003714.1:p.Pro8Gln

Select item 122413508311.

rs1224135083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99460135 (GRCh38)
7:99057758 (GRCh37)
Canonical SPDI:: NC_000007.14:99460134:G:A
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99460135G>A, NC_000007.13:g.99057758G>A, NM_004889.5:c.90C>T, NM_004889.4:c.90C>T, NM_004889.3:c.90C>T, NM_001003713.4:c.72C>T, NM_001003713.3:c.72C>T, NM_001003713.2:c.72C>T, NM_001003714.4:c.90C>T, NM_001003714.3:c.90C>T, NM_001003714.2:c.90C>T, NM_001039178.4:c.72C>T, NM_001039178.3:c.72C>T, NM_001039178.2:c.72C>T, NM_001198879.2:c.72C>T, NM_001198879.1:c.72C>T, NM_001190353.1:c.90C>T, NM_001190354.1:c.72C>T

Select item 118104745512.

rs1181047455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99460114 (GRCh38)
7:99057737 (GRCh37)
Canonical SPDI:: NC_000007.14:99460113:A:G
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.99460114A>G, NC_000007.13:g.99057737A>G, NM_004889.5:c.111T>C, NM_004889.4:c.111T>C, NM_004889.3:c.111T>C, NM_001003713.4:c.93T>C, NM_001003713.3:c.93T>C, NM_001003713.2:c.93T>C, NM_001003714.4:c.111T>C, NM_001003714.3:c.111T>C, NM_001003714.2:c.111T>C, NM_001039178.4:c.93T>C, NM_001039178.3:c.93T>C, NM_001039178.2:c.93T>C, NM_001198879.2:c.93T>C, NM_001198879.1:c.93T>C, NM_001190353.1:c.111T>C, NM_001190354.1:c.93T>C

Select item 116691271613.

rs1166912716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99460179 (GRCh38)
7:99057802 (GRCh37)
Canonical SPDI:: NC_000007.14:99460178:T:C
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99460179T>C, NC_000007.13:g.99057802T>C, NM_004889.5:c.46A>G, NM_004889.4:c.46A>G, NM_004889.3:c.46A>G, NM_001003713.4:c.28A>G, NM_001003713.3:c.28A>G, NM_001003713.2:c.28A>G, NM_001003714.4:c.46A>G, NM_001003714.3:c.46A>G, NM_001003714.2:c.46A>G, NM_001039178.4:c.28A>G, NM_001039178.3:c.28A>G, NM_001039178.2:c.28A>G, NM_001198879.2:c.28A>G, NM_001198879.1:c.28A>G, NM_001190353.1:c.46A>G, NM_001190354.1:c.28A>G, NP_004880.1:p.Lys16Glu, NP_001003713.1:p.Lys10Glu, NP_001003714.1:p.Lys16Glu, NP_001034267.1:p.Lys10Glu, NP_001185808.1:p.Lys10Glu

Select item 99312019014.

rs993120190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99460181 (GRCh38)
7:99057804 (GRCh37)
Canonical SPDI:: NC_000007.14:99460180:T:C
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99460181T>C, NC_000007.13:g.99057804T>C, NM_004889.5:c.44A>G, NM_004889.4:c.44A>G, NM_004889.3:c.44A>G, NM_001003713.4:c.26A>G, NM_001003713.3:c.26A>G, NM_001003713.2:c.26A>G, NM_001003714.4:c.44A>G, NM_001003714.3:c.44A>G, NM_001003714.2:c.44A>G, NM_001039178.4:c.26A>G, NM_001039178.3:c.26A>G, NM_001039178.2:c.26A>G, NM_001198879.2:c.26A>G, NM_001198879.1:c.26A>G, NM_001190353.1:c.44A>G, NM_001190354.1:c.26A>G, NP_004880.1:p.Asp15Gly, NP_001003713.1:p.Asp9Gly, NP_001003714.1:p.Asp15Gly, NP_001034267.1:p.Asp9Gly, NP_001185808.1:p.Asp9Gly

Select item 96956408215.

rs969564082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:99466114 (GRCh38)
7:99063737 (GRCh37)
Canonical SPDI:: NC_000007.14:99466113:G:A,NC_000007.14:99466113:G:C
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99466114G>A, NC_000007.14:g.99466114G>C, NC_000007.13:g.99063737G>A, NC_000007.13:g.99063737G>C, NM_004889.5:c.28C>T, NM_004889.5:c.28C>G, NM_004889.4:c.28C>T, NM_004889.4:c.28C>G, NM_004889.3:c.28C>T, NM_004889.3:c.28C>G, NM_001003714.4:c.28C>T, NM_001003714.4:c.28C>G, NM_001003714.3:c.28C>T, NM_001003714.3:c.28C>G, NM_001003714.2:c.28C>T, NM_001003714.2:c.28C>G, NM_001190353.1:c.28C>T, NM_001190353.1:c.28C>G, NP_004880.1:p.Pro10Ser, NP_004880.1:p.Pro10Ala, NP_001003714.1:p.Pro10Ser, NP_001003714.1:p.Pro10Ala

Select item 89185005316.

rs891850053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:99466111 (GRCh38)
7:99063734 (GRCh37)
Canonical SPDI:: NC_000007.14:99466110:C:A,NC_000007.14:99466110:C:G,NC_000007.14:99466110:C:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99466111C>A, NC_000007.14:g.99466111C>G, NC_000007.14:g.99466111C>T, NC_000007.13:g.99063734C>A, NC_000007.13:g.99063734C>G, NC_000007.13:g.99063734C>T, NM_004889.5:c.31G>T, NM_004889.5:c.31G>C, NM_004889.5:c.31G>A, NM_004889.4:c.31G>T, NM_004889.4:c.31G>C, NM_004889.4:c.31G>A, NM_004889.3:c.31G>T, NM_004889.3:c.31G>C, NM_004889.3:c.31G>A, NM_001003714.4:c.31G>T, NM_001003714.4:c.31G>C, NM_001003714.4:c.31G>A, NM_001003714.3:c.31G>T, NM_001003714.3:c.31G>C, NM_001003714.3:c.31G>A, NM_001003714.2:c.31G>T, NM_001003714.2:c.31G>C, NM_001003714.2:c.31G>A, NM_001190353.1:c.31G>T, NM_001190353.1:c.31G>C, NM_001190353.1:c.31G>A, NP_004880.1:p.Val11Leu, NP_004880.1:p.Val11Leu, NP_004880.1:p.Val11Ile, NP_001003714.1:p.Val11Leu, NP_001003714.1:p.Val11Leu, NP_001003714.1:p.Val11Ile

Select item 78073199917.

rs780731999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99460153 (GRCh38)
7:99057776 (GRCh37)
Canonical SPDI:: NC_000007.14:99460152:C:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (ExAC)
HGVS:: NC_000007.14:g.99460153C>T, NC_000007.13:g.99057776C>T, NM_004889.5:c.72G>A, NM_004889.4:c.72G>A, NM_004889.3:c.72G>A, NM_001003713.4:c.54G>A, NM_001003713.3:c.54G>A, NM_001003713.2:c.54G>A, NM_001003714.4:c.72G>A, NM_001003714.3:c.72G>A, NM_001003714.2:c.72G>A, NM_001039178.4:c.54G>A, NM_001039178.3:c.54G>A, NM_001039178.2:c.54G>A, NM_001198879.2:c.54G>A, NM_001198879.1:c.54G>A, NM_001190353.1:c.72G>A, NM_001190354.1:c.54G>A

Select item 78026304418.

rs780263044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99458331 (GRCh38)
7:99055954 (GRCh37)
Canonical SPDI:: NC_000007.14:99458330:T:C
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000011/1 (ExAC)
HGVS:: NC_000007.14:g.99458331T>C, NC_000007.13:g.99055954T>C, NM_004889.5:c.281A>G, NM_004889.4:c.281A>G, NM_004889.3:c.281A>G, NM_001003713.4:c.263A>G, NM_001003713.3:c.263A>G, NM_001003713.2:c.263A>G, NM_001003714.4:c.164A>G, NM_001003714.3:c.164A>G, NM_001003714.2:c.164A>G, NM_001039178.4:c.146A>G, NM_001039178.3:c.146A>G, NM_001039178.2:c.146A>G, NP_004880.1:p.His94Arg, NP_001003713.1:p.His88Arg, NP_001003714.1:p.His55Arg, NP_001034267.1:p.His49Arg

Select item 77732452119.

rs777324521 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:99458340 (GRCh38)
7:99055963 (GRCh37)
Canonical SPDI:: NC_000007.14:99458339:C:G,NC_000007.14:99458339:C:T
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.99458340C>G, NC_000007.14:g.99458340C>T, NC_000007.13:g.99055963C>G, NC_000007.13:g.99055963C>T, NM_004889.5:c.272G>C, NM_004889.5:c.272G>A, NM_004889.4:c.272G>C, NM_004889.4:c.272G>A, NM_004889.3:c.272G>C, NM_004889.3:c.272G>A, NM_001003713.4:c.254G>C, NM_001003713.4:c.254G>A, NM_001003713.3:c.254G>C, NM_001003713.3:c.254G>A, NM_001003713.2:c.254G>C, NM_001003713.2:c.254G>A, NM_001003714.4:c.155G>C, NM_001003714.4:c.155G>A, NM_001003714.3:c.155G>C, NM_001003714.3:c.155G>A, NM_001003714.2:c.155G>C, NM_001003714.2:c.155G>A, NM_001039178.4:c.137G>C, NM_001039178.4:c.137G>A, NM_001039178.3:c.137G>C, NM_001039178.3:c.137G>A, NM_001039178.2:c.137G>C, NM_001039178.2:c.137G>A, NP_004880.1:p.Arg91Pro, NP_004880.1:p.Arg91His, NP_001003713.1:p.Arg85Pro, NP_001003713.1:p.Arg85His, NP_001003714.1:p.Arg52Pro, NP_001003714.1:p.Arg52His, NP_001034267.1:p.Arg46Pro, NP_001034267.1:p.Arg46His

Select item 77639413720.

rs776394137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99460094 (GRCh38)
7:99057717 (GRCh37)
Canonical SPDI:: NC_000007.14:99460093:A:G
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000008/1 (ExAC)
HGVS:: NC_000007.14:g.99460094A>G, NC_000007.13:g.99057717A>G, NM_004889.5:c.131T>C, NM_004889.4:c.131T>C, NM_004889.3:c.131T>C, NM_001003713.4:c.113T>C, NM_001003713.3:c.113T>C, NM_001003713.2:c.113T>C, NM_001003714.4:c.131T>C, NM_001003714.3:c.131T>C, NM_001003714.2:c.131T>C, NM_001039178.4:c.113T>C, NM_001039178.3:c.113T>C, NM_001039178.2:c.113T>C, NM_001198879.2:c.113T>C, NM_001198879.1:c.113T>C, NM_001190353.1:c.131T>C, NM_001190354.1:c.113T>C, NP_004880.1:p.Phe44Ser, NP_001003713.1:p.Phe38Ser, NP_001003714.1:p.Phe44Ser, NP_001034267.1:p.Phe38Ser, NP_001185808.1:p.Phe38Ser

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