SNP Links for Protein (Select 968121879) - SNP

Links from Protein

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Select item 14798188461.

rs1479818846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:46512645 (GRCh38)
2:46739784 (GRCh37)
Canonical SPDI:: NC_000002.12:46512644:C:G
Gene:: ATP6V1E2 (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_000002.12:g.46512645C>G, NC_000002.11:g.46739784C>G, XM_011533152.4:c.67G>C, XM_011533152.3:c.67G>C, XM_011533152.2:c.67G>C, XM_011533152.1:c.67G>C, XM_011533148.4:c.67G>C, XM_011533148.3:c.67G>C, XM_011533148.2:c.67G>C, XM_011533148.1:c.67G>C, XM_011533149.4:c.67G>C, XM_011533149.3:c.67G>C, XM_011533149.2:c.67G>C, XM_011533149.1:c.67G>C, XM_011533151.4:c.67G>C, XM_011533151.3:c.67G>C, XM_011533151.2:c.67G>C, XM_011533151.1:c.67G>C, NM_080653.3:c.67G>C, XM_017005225.2:c.67G>C, XM_017005225.1:c.67G>C, NM_001318063.2:c.67G>C, NM_001318063.1:c.67G>C, XM_047446255.1:c.67G>C, NM_001371281.1:c.67G>C, NM_001371282.1:c.67G>C, XM_047446256.1:c.67G>C, NM_001371283.1:c.67G>C, XM_047446257.1:c.67G>C, XP_011531454.1:p.Ala23Pro, XP_011531450.1:p.Ala23Pro, XP_011531451.1:p.Ala23Pro, XP_011531453.1:p.Ala23Pro, XP_016860714.1:p.Ala23Pro, NP_001304992.1:p.Ala23Pro, XP_047302211.1:p.Ala23Pro, NP_001358210.1:p.Ala23Pro, NP_001358211.1:p.Ala23Pro, XP_047302212.1:p.Ala23Pro, NP_001358212.1:p.Ala23Pro, XP_047302213.1:p.Ala23Pro

Select item 14775531952.

rs1477553195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:46512181 (GRCh38)
2:46739320 (GRCh37)
Canonical SPDI:: NC_000002.12:46512180:T:C,NC_000002.12:46512180:T:G
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.46512181T>C, NC_000002.12:g.46512181T>G, NC_000002.11:g.46739320T>C, NC_000002.11:g.46739320T>G, XM_011533152.4:c.531A>G, XM_011533152.4:c.531A>C, XM_011533152.3:c.531A>G, XM_011533152.3:c.531A>C, XM_011533152.2:c.531A>G, XM_011533152.2:c.531A>C, XM_011533152.1:c.531A>G, XM_011533152.1:c.531A>C, XM_011533148.4:c.531A>G, XM_011533148.4:c.531A>C, XM_011533148.3:c.531A>G, XM_011533148.3:c.531A>C, XM_011533148.2:c.531A>G, XM_011533148.2:c.531A>C, XM_011533148.1:c.531A>G, XM_011533148.1:c.531A>C, XM_011533149.4:c.531A>G, XM_011533149.4:c.531A>C, XM_011533149.3:c.531A>G, XM_011533149.3:c.531A>C, XM_011533149.2:c.531A>G, XM_011533149.2:c.531A>C, XM_011533149.1:c.531A>G, XM_011533149.1:c.531A>C, XM_011533151.4:c.531A>G, XM_011533151.4:c.531A>C, XM_011533151.3:c.531A>G, XM_011533151.3:c.531A>C, XM_011533151.2:c.531A>G, XM_011533151.2:c.531A>C, XM_011533151.1:c.531A>G, XM_011533151.1:c.531A>C, NM_080653.3:c.531A>G, NM_080653.3:c.531A>C, XM_017005225.2:c.531A>G, XM_017005225.2:c.531A>C, XM_017005225.1:c.531A>G, XM_017005225.1:c.531A>C, NM_001318063.2:c.531A>G, NM_001318063.2:c.531A>C, NM_001318063.1:c.531A>G, NM_001318063.1:c.531A>C, XM_047446255.1:c.531A>G, XM_047446255.1:c.531A>C, NM_001371281.1:c.531A>G, NM_001371281.1:c.531A>C, NM_001371282.1:c.531A>G, NM_001371282.1:c.531A>C, XM_047446256.1:c.531A>G, XM_047446256.1:c.531A>C, NM_001371283.1:c.531A>G, NM_001371283.1:c.531A>C, XM_047446257.1:c.531A>G, XM_047446257.1:c.531A>C

Select item 14765972533.

rs1476597253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:46512435 (GRCh38)
2:46739574 (GRCh37)
Canonical SPDI:: NC_000002.12:46512434:C:G
Gene:: ATP6V1E2 (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_000002.12:g.46512435C>G, NC_000002.11:g.46739574C>G, XM_011533152.4:c.277G>C, XM_011533152.3:c.277G>C, XM_011533152.2:c.277G>C, XM_011533152.1:c.277G>C, XM_011533148.4:c.277G>C, XM_011533148.3:c.277G>C, XM_011533148.2:c.277G>C, XM_011533148.1:c.277G>C, XM_011533149.4:c.277G>C, XM_011533149.3:c.277G>C, XM_011533149.2:c.277G>C, XM_011533149.1:c.277G>C, XM_011533151.4:c.277G>C, XM_011533151.3:c.277G>C, XM_011533151.2:c.277G>C, XM_011533151.1:c.277G>C, NM_080653.3:c.277G>C, XM_017005225.2:c.277G>C, XM_017005225.1:c.277G>C, NM_001318063.2:c.277G>C, NM_001318063.1:c.277G>C, XM_047446255.1:c.277G>C, NM_001371281.1:c.277G>C, NM_001371282.1:c.277G>C, XM_047446256.1:c.277G>C, NM_001371283.1:c.277G>C, XM_047446257.1:c.277G>C, XP_011531454.1:p.Asp93His, XP_011531450.1:p.Asp93His, XP_011531451.1:p.Asp93His, XP_011531453.1:p.Asp93His, XP_016860714.1:p.Asp93His, NP_001304992.1:p.Asp93His, XP_047302211.1:p.Asp93His, NP_001358210.1:p.Asp93His, NP_001358211.1:p.Asp93His, XP_047302212.1:p.Asp93His, NP_001358212.1:p.Asp93His, XP_047302213.1:p.Asp93His

Select item 14714685754.

rs1471468575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:46512699 (GRCh38)
2:46739838 (GRCh37)
Canonical SPDI:: NC_000002.12:46512698:C:G
Gene:: ATP6V1E2 (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=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46512699C>G, NC_000002.11:g.46739838C>G, XM_011533152.4:c.13G>C, XM_011533152.3:c.13G>C, XM_011533152.2:c.13G>C, XM_011533152.1:c.13G>C, XM_011533148.4:c.13G>C, XM_011533148.3:c.13G>C, XM_011533148.2:c.13G>C, XM_011533148.1:c.13G>C, XM_011533149.4:c.13G>C, XM_011533149.3:c.13G>C, XM_011533149.2:c.13G>C, XM_011533149.1:c.13G>C, XM_011533151.4:c.13G>C, XM_011533151.3:c.13G>C, XM_011533151.2:c.13G>C, XM_011533151.1:c.13G>C, NM_080653.3:c.13G>C, XM_017005225.2:c.13G>C, XM_017005225.1:c.13G>C, NM_001318063.2:c.13G>C, NM_001318063.1:c.13G>C, XM_047446255.1:c.13G>C, NM_001371281.1:c.13G>C, NM_001371282.1:c.13G>C, XM_047446256.1:c.13G>C, NM_001371283.1:c.13G>C, XM_047446257.1:c.13G>C, XP_011531454.1:p.Asp5His, XP_011531450.1:p.Asp5His, XP_011531451.1:p.Asp5His, XP_011531453.1:p.Asp5His, XP_016860714.1:p.Asp5His, NP_001304992.1:p.Asp5His, XP_047302211.1:p.Asp5His, NP_001358210.1:p.Asp5His, NP_001358211.1:p.Asp5His, XP_047302212.1:p.Asp5His, NP_001358212.1:p.Asp5His, XP_047302213.1:p.Asp5His

Select item 14696772075.

rs1469677207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:46512677 (GRCh38)
2:46739816 (GRCh37)
Canonical SPDI:: NC_000002.12:46512676:A:G
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.46512677A>G, NC_000002.11:g.46739816A>G, XM_011533152.4:c.35T>C, XM_011533152.3:c.35T>C, XM_011533152.2:c.35T>C, XM_011533152.1:c.35T>C, XM_011533148.4:c.35T>C, XM_011533148.3:c.35T>C, XM_011533148.2:c.35T>C, XM_011533148.1:c.35T>C, XM_011533149.4:c.35T>C, XM_011533149.3:c.35T>C, XM_011533149.2:c.35T>C, XM_011533149.1:c.35T>C, XM_011533151.4:c.35T>C, XM_011533151.3:c.35T>C, XM_011533151.2:c.35T>C, XM_011533151.1:c.35T>C, NM_080653.3:c.35T>C, XM_017005225.2:c.35T>C, XM_017005225.1:c.35T>C, NM_001318063.2:c.35T>C, NM_001318063.1:c.35T>C, XM_047446255.1:c.35T>C, NM_001371281.1:c.35T>C, NM_001371282.1:c.35T>C, XM_047446256.1:c.35T>C, NM_001371283.1:c.35T>C, XM_047446257.1:c.35T>C, XP_011531454.1:p.Ile12Thr, XP_011531450.1:p.Ile12Thr, XP_011531451.1:p.Ile12Thr, XP_011531453.1:p.Ile12Thr, XP_016860714.1:p.Ile12Thr, NP_001304992.1:p.Ile12Thr, XP_047302211.1:p.Ile12Thr, NP_001358210.1:p.Ile12Thr, NP_001358211.1:p.Ile12Thr, XP_047302212.1:p.Ile12Thr, NP_001358212.1:p.Ile12Thr, XP_047302213.1:p.Ile12Thr

Select item 14623093666.

rs1462309366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:46512611 (GRCh38)
2:46739750 (GRCh37)
Canonical SPDI:: NC_000002.12:46512610:G:T
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.46512611G>T, NC_000002.11:g.46739750G>T, XM_011533152.4:c.101C>A, XM_011533152.3:c.101C>A, XM_011533152.2:c.101C>A, XM_011533152.1:c.101C>A, XM_011533148.4:c.101C>A, XM_011533148.3:c.101C>A, XM_011533148.2:c.101C>A, XM_011533148.1:c.101C>A, XM_011533149.4:c.101C>A, XM_011533149.3:c.101C>A, XM_011533149.2:c.101C>A, XM_011533149.1:c.101C>A, XM_011533151.4:c.101C>A, XM_011533151.3:c.101C>A, XM_011533151.2:c.101C>A, XM_011533151.1:c.101C>A, NM_080653.3:c.101C>A, XM_017005225.2:c.101C>A, XM_017005225.1:c.101C>A, NM_001318063.2:c.101C>A, NM_001318063.1:c.101C>A, XM_047446255.1:c.101C>A, NM_001371281.1:c.101C>A, NM_001371282.1:c.101C>A, XM_047446256.1:c.101C>A, NM_001371283.1:c.101C>A, XM_047446257.1:c.101C>A, XP_011531454.1:p.Ala34Asp, XP_011531450.1:p.Ala34Asp, XP_011531451.1:p.Ala34Asp, XP_011531453.1:p.Ala34Asp, XP_016860714.1:p.Ala34Asp, NP_001304992.1:p.Ala34Asp, XP_047302211.1:p.Ala34Asp, NP_001358210.1:p.Ala34Asp, NP_001358211.1:p.Ala34Asp, XP_047302212.1:p.Ala34Asp, NP_001358212.1:p.Ala34Asp, XP_047302213.1:p.Ala34Asp

Select item 14562961687.

rs1456296168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:46512409 (GRCh38)
2:46739548 (GRCh37)
Canonical SPDI:: NC_000002.12:46512408:T:A
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46512409T>A, NC_000002.11:g.46739548T>A, XM_011533152.4:c.303A>T, XM_011533152.3:c.303A>T, XM_011533152.2:c.303A>T, XM_011533152.1:c.303A>T, XM_011533148.4:c.303A>T, XM_011533148.3:c.303A>T, XM_011533148.2:c.303A>T, XM_011533148.1:c.303A>T, XM_011533149.4:c.303A>T, XM_011533149.3:c.303A>T, XM_011533149.2:c.303A>T, XM_011533149.1:c.303A>T, XM_011533151.4:c.303A>T, XM_011533151.3:c.303A>T, XM_011533151.2:c.303A>T, XM_011533151.1:c.303A>T, NM_080653.3:c.303A>T, XM_017005225.2:c.303A>T, XM_017005225.1:c.303A>T, NM_001318063.2:c.303A>T, NM_001318063.1:c.303A>T, XM_047446255.1:c.303A>T, NM_001371281.1:c.303A>T, NM_001371282.1:c.303A>T, XM_047446256.1:c.303A>T, NM_001371283.1:c.303A>T, XM_047446257.1:c.303A>T, XP_011531454.1:p.Arg101Ser, XP_011531450.1:p.Arg101Ser, XP_011531451.1:p.Arg101Ser, XP_011531453.1:p.Arg101Ser, XP_016860714.1:p.Arg101Ser, NP_001304992.1:p.Arg101Ser, XP_047302211.1:p.Arg101Ser, NP_001358210.1:p.Arg101Ser, NP_001358211.1:p.Arg101Ser, XP_047302212.1:p.Arg101Ser, NP_001358212.1:p.Arg101Ser, XP_047302213.1:p.Arg101Ser

Select item 14534410538.

rs1453441053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46512442 (GRCh38)
2:46739581 (GRCh37)
Canonical SPDI:: NC_000002.12:46512441:G:A
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.46512442G>A, NC_000002.11:g.46739581G>A, XM_011533152.4:c.270C>T, XM_011533152.3:c.270C>T, XM_011533152.2:c.270C>T, XM_011533152.1:c.270C>T, XM_011533148.4:c.270C>T, XM_011533148.3:c.270C>T, XM_011533148.2:c.270C>T, XM_011533148.1:c.270C>T, XM_011533149.4:c.270C>T, XM_011533149.3:c.270C>T, XM_011533149.2:c.270C>T, XM_011533149.1:c.270C>T, XM_011533151.4:c.270C>T, XM_011533151.3:c.270C>T, XM_011533151.2:c.270C>T, XM_011533151.1:c.270C>T, NM_080653.3:c.270C>T, XM_017005225.2:c.270C>T, XM_017005225.1:c.270C>T, NM_001318063.2:c.270C>T, NM_001318063.1:c.270C>T, XM_047446255.1:c.270C>T, NM_001371281.1:c.270C>T, NM_001371282.1:c.270C>T, XM_047446256.1:c.270C>T, NM_001371283.1:c.270C>T, XM_047446257.1:c.270C>T

Select item 14487299919.

rs1448729991 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:46512490 (GRCh38)
2:46739629 (GRCh37)
Canonical SPDI:: NC_000002.12:46512489:G:C
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000002.12:g.46512490G>C, NC_000002.11:g.46739629G>C, XM_011533152.4:c.222C>G, XM_011533152.3:c.222C>G, XM_011533152.2:c.222C>G, XM_011533152.1:c.222C>G, XM_011533148.4:c.222C>G, XM_011533148.3:c.222C>G, XM_011533148.2:c.222C>G, XM_011533148.1:c.222C>G, XM_011533149.4:c.222C>G, XM_011533149.3:c.222C>G, XM_011533149.2:c.222C>G, XM_011533149.1:c.222C>G, XM_011533151.4:c.222C>G, XM_011533151.3:c.222C>G, XM_011533151.2:c.222C>G, XM_011533151.1:c.222C>G, NM_080653.3:c.222C>G, XM_017005225.2:c.222C>G, XM_017005225.1:c.222C>G, NM_001318063.2:c.222C>G, NM_001318063.1:c.222C>G, XM_047446255.1:c.222C>G, NM_001371281.1:c.222C>G, NM_001371282.1:c.222C>G, XM_047446256.1:c.222C>G, NM_001371283.1:c.222C>G, XM_047446257.1:c.222C>G

Select item 144825073610.

rs1448250736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:46512619 (GRCh38)
2:46739758 (GRCh37)
Canonical SPDI:: NC_000002.12:46512618:A:G
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46512619A>G, NC_000002.11:g.46739758A>G, XM_011533152.4:c.93T>C, XM_011533152.3:c.93T>C, XM_011533152.2:c.93T>C, XM_011533152.1:c.93T>C, XM_011533148.4:c.93T>C, XM_011533148.3:c.93T>C, XM_011533148.2:c.93T>C, XM_011533148.1:c.93T>C, XM_011533149.4:c.93T>C, XM_011533149.3:c.93T>C, XM_011533149.2:c.93T>C, XM_011533149.1:c.93T>C, XM_011533151.4:c.93T>C, XM_011533151.3:c.93T>C, XM_011533151.2:c.93T>C, XM_011533151.1:c.93T>C, NM_080653.3:c.93T>C, XM_017005225.2:c.93T>C, XM_017005225.1:c.93T>C, NM_001318063.2:c.93T>C, NM_001318063.1:c.93T>C, XM_047446255.1:c.93T>C, NM_001371281.1:c.93T>C, NM_001371282.1:c.93T>C, XM_047446256.1:c.93T>C, NM_001371283.1:c.93T>C, XM_047446257.1:c.93T>C

Select item 144640269711.

rs1446402697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46512040 (GRCh38)
2:46739179 (GRCh37)
Canonical SPDI:: NC_000002.12:46512039:G:A
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.46512040G>A, NC_000002.11:g.46739179G>A, XM_011533152.4:c.672C>T, XM_011533152.3:c.672C>T, XM_011533152.2:c.672C>T, XM_011533152.1:c.672C>T, XM_011533148.4:c.672C>T, XM_011533148.3:c.672C>T, XM_011533148.2:c.672C>T, XM_011533148.1:c.672C>T, XM_011533149.4:c.672C>T, XM_011533149.3:c.672C>T, XM_011533149.2:c.672C>T, XM_011533149.1:c.672C>T, XM_011533151.4:c.672C>T, XM_011533151.3:c.672C>T, XM_011533151.2:c.672C>T, XM_011533151.1:c.672C>T, NM_080653.3:c.672C>T, XM_017005225.2:c.672C>T, XM_017005225.1:c.672C>T, NM_001318063.2:c.672C>T, NM_001318063.1:c.672C>T, XM_047446255.1:c.672C>T, NM_001371281.1:c.672C>T, NM_001371282.1:c.672C>T, XM_047446256.1:c.672C>T, NM_001371283.1:c.672C>T, XM_047446257.1:c.672C>T

Select item 143992620312.

rs1439926203 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:46512090 (GRCh38)
2:46739229 (GRCh37)
Canonical SPDI:: NC_000002.12:46512089:T:C
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46512090T>C, NC_000002.11:g.46739229T>C, XM_011533152.4:c.622A>G, XM_011533152.3:c.622A>G, XM_011533152.2:c.622A>G, XM_011533152.1:c.622A>G, XM_011533148.4:c.622A>G, XM_011533148.3:c.622A>G, XM_011533148.2:c.622A>G, XM_011533148.1:c.622A>G, XM_011533149.4:c.622A>G, XM_011533149.3:c.622A>G, XM_011533149.2:c.622A>G, XM_011533149.1:c.622A>G, XM_011533151.4:c.622A>G, XM_011533151.3:c.622A>G, XM_011533151.2:c.622A>G, XM_011533151.1:c.622A>G, NM_080653.3:c.622A>G, XM_017005225.2:c.622A>G, XM_017005225.1:c.622A>G, NM_001318063.2:c.622A>G, NM_001318063.1:c.622A>G, XM_047446255.1:c.622A>G, NM_001371281.1:c.622A>G, NM_001371282.1:c.622A>G, XM_047446256.1:c.622A>G, NM_001371283.1:c.622A>G, XM_047446257.1:c.622A>G, XP_011531454.1:p.Met208Val, XP_011531450.1:p.Met208Val, XP_011531451.1:p.Met208Val, XP_011531453.1:p.Met208Val, XP_016860714.1:p.Met208Val, NP_001304992.1:p.Met208Val, XP_047302211.1:p.Met208Val, NP_001358210.1:p.Met208Val, NP_001358211.1:p.Met208Val, XP_047302212.1:p.Met208Val, NP_001358212.1:p.Met208Val, XP_047302213.1:p.Met208Val

Select item 143639353313.

rs1436393533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:46512265 (GRCh38)
2:46739404 (GRCh37)
Canonical SPDI:: NC_000002.12:46512264:T:C
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.46512265T>C, NC_000002.11:g.46739404T>C, XM_011533152.4:c.447A>G, XM_011533152.3:c.447A>G, XM_011533152.2:c.447A>G, XM_011533152.1:c.447A>G, XM_011533148.4:c.447A>G, XM_011533148.3:c.447A>G, XM_011533148.2:c.447A>G, XM_011533148.1:c.447A>G, XM_011533149.4:c.447A>G, XM_011533149.3:c.447A>G, XM_011533149.2:c.447A>G, XM_011533149.1:c.447A>G, XM_011533151.4:c.447A>G, XM_011533151.3:c.447A>G, XM_011533151.2:c.447A>G, XM_011533151.1:c.447A>G, NM_080653.3:c.447A>G, XM_017005225.2:c.447A>G, XM_017005225.1:c.447A>G, NM_001318063.2:c.447A>G, NM_001318063.1:c.447A>G, XM_047446255.1:c.447A>G, NM_001371281.1:c.447A>G, NM_001371282.1:c.447A>G, XM_047446256.1:c.447A>G, NM_001371283.1:c.447A>G, XM_047446257.1:c.447A>G

Select item 143354719514.

rs1433547195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:46512521 (GRCh38)
2:46739660 (GRCh37)
Canonical SPDI:: NC_000002.12:46512520:A:C,NC_000002.12:46512520:A:G
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.46512521A>C, NC_000002.12:g.46512521A>G, NC_000002.11:g.46739660A>C, NC_000002.11:g.46739660A>G, XM_011533152.4:c.191T>G, XM_011533152.4:c.191T>C, XM_011533152.3:c.191T>G, XM_011533152.3:c.191T>C, XM_011533152.2:c.191T>G, XM_011533152.2:c.191T>C, XM_011533152.1:c.191T>G, XM_011533152.1:c.191T>C, XM_011533148.4:c.191T>G, XM_011533148.4:c.191T>C, XM_011533148.3:c.191T>G, XM_011533148.3:c.191T>C, XM_011533148.2:c.191T>G, XM_011533148.2:c.191T>C, XM_011533148.1:c.191T>G, XM_011533148.1:c.191T>C, XM_011533149.4:c.191T>G, XM_011533149.4:c.191T>C, XM_011533149.3:c.191T>G, XM_011533149.3:c.191T>C, XM_011533149.2:c.191T>G, XM_011533149.2:c.191T>C, XM_011533149.1:c.191T>G, XM_011533149.1:c.191T>C, XM_011533151.4:c.191T>G, XM_011533151.4:c.191T>C, XM_011533151.3:c.191T>G, XM_011533151.3:c.191T>C, XM_011533151.2:c.191T>G, XM_011533151.2:c.191T>C, XM_011533151.1:c.191T>G, XM_011533151.1:c.191T>C, NM_080653.3:c.191T>G, NM_080653.3:c.191T>C, XM_017005225.2:c.191T>G, XM_017005225.2:c.191T>C, XM_017005225.1:c.191T>G, XM_017005225.1:c.191T>C, NM_001318063.2:c.191T>G, NM_001318063.2:c.191T>C, NM_001318063.1:c.191T>G, NM_001318063.1:c.191T>C, XM_047446255.1:c.191T>G, XM_047446255.1:c.191T>C, NM_001371281.1:c.191T>G, NM_001371281.1:c.191T>C, NM_001371282.1:c.191T>G, NM_001371282.1:c.191T>C, XM_047446256.1:c.191T>G, XM_047446256.1:c.191T>C, NM_001371283.1:c.191T>G, NM_001371283.1:c.191T>C, XM_047446257.1:c.191T>G, XM_047446257.1:c.191T>C, XP_011531454.1:p.Ile64Arg, XP_011531454.1:p.Ile64Thr, XP_011531450.1:p.Ile64Arg, XP_011531450.1:p.Ile64Thr, XP_011531451.1:p.Ile64Arg, XP_011531451.1:p.Ile64Thr, XP_011531453.1:p.Ile64Arg, XP_011531453.1:p.Ile64Thr, XP_016860714.1:p.Ile64Arg, XP_016860714.1:p.Ile64Thr, NP_001304992.1:p.Ile64Arg, NP_001304992.1:p.Ile64Thr, XP_047302211.1:p.Ile64Arg, XP_047302211.1:p.Ile64Thr, NP_001358210.1:p.Ile64Arg, NP_001358210.1:p.Ile64Thr, NP_001358211.1:p.Ile64Arg, NP_001358211.1:p.Ile64Thr, XP_047302212.1:p.Ile64Arg, XP_047302212.1:p.Ile64Thr, NP_001358212.1:p.Ile64Arg, NP_001358212.1:p.Ile64Thr, XP_047302213.1:p.Ile64Arg, XP_047302213.1:p.Ile64Thr

Select item 143290796915.

rs1432907969 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:46512584 (GRCh38)
2:46739723 (GRCh37)
Canonical SPDI:: NC_000002.12:46512583:CC:C
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46512585del, NC_000002.11:g.46739724del, XM_011533152.4:c.128del, XM_011533152.3:c.128del, XM_011533152.2:c.128del, XM_011533152.1:c.128del, XM_011533148.4:c.128del, XM_011533148.3:c.128del, XM_011533148.2:c.128del, XM_011533148.1:c.128del, XM_011533149.4:c.128del, XM_011533149.3:c.128del, XM_011533149.2:c.128del, XM_011533149.1:c.128del, XM_011533151.4:c.128del, XM_011533151.3:c.128del, XM_011533151.2:c.128del, XM_011533151.1:c.128del, NM_080653.3:c.128del, XM_017005225.2:c.128del, XM_017005225.1:c.128del, NM_001318063.2:c.128del, NM_001318063.1:c.128del, XM_047446255.1:c.128del, NM_001371281.1:c.128del, NM_001371282.1:c.128del, XM_047446256.1:c.128del, NM_001371283.1:c.128del, XM_047446257.1:c.128del, XP_011531454.1:p.Gly43fs, XP_011531450.1:p.Gly43fs, XP_011531451.1:p.Gly43fs, XP_011531453.1:p.Gly43fs, XP_016860714.1:p.Gly43fs, NP_001304992.1:p.Gly43fs, XP_047302211.1:p.Gly43fs, NP_001358210.1:p.Gly43fs, NP_001358211.1:p.Gly43fs, XP_047302212.1:p.Gly43fs, NP_001358212.1:p.Gly43fs, XP_047302213.1:p.Gly43fs

Select item 143261852316.

rs1432618523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:46512383 (GRCh38)
2:46739522 (GRCh37)
Canonical SPDI:: NC_000002.12:46512382:T:A
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.46512383T>A, NC_000002.11:g.46739522T>A, XM_011533152.4:c.329A>T, XM_011533152.3:c.329A>T, XM_011533152.2:c.329A>T, XM_011533152.1:c.329A>T, XM_011533148.4:c.329A>T, XM_011533148.3:c.329A>T, XM_011533148.2:c.329A>T, XM_011533148.1:c.329A>T, XM_011533149.4:c.329A>T, XM_011533149.3:c.329A>T, XM_011533149.2:c.329A>T, XM_011533149.1:c.329A>T, XM_011533151.4:c.329A>T, XM_011533151.3:c.329A>T, XM_011533151.2:c.329A>T, XM_011533151.1:c.329A>T, NM_080653.3:c.329A>T, XM_017005225.2:c.329A>T, XM_017005225.1:c.329A>T, NM_001318063.2:c.329A>T, NM_001318063.1:c.329A>T, XM_047446255.1:c.329A>T, NM_001371281.1:c.329A>T, NM_001371282.1:c.329A>T, XM_047446256.1:c.329A>T, NM_001371283.1:c.329A>T, XM_047446257.1:c.329A>T, XP_011531454.1:p.Glu110Val, XP_011531450.1:p.Glu110Val, XP_011531451.1:p.Glu110Val, XP_011531453.1:p.Glu110Val, XP_016860714.1:p.Glu110Val, NP_001304992.1:p.Glu110Val, XP_047302211.1:p.Glu110Val, NP_001358210.1:p.Glu110Val, NP_001358211.1:p.Glu110Val, XP_047302212.1:p.Glu110Val, NP_001358212.1:p.Glu110Val, XP_047302213.1:p.Glu110Val

Select item 142918611617.

rs1429186116 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:46512251 (GRCh38)
2:46739390 (GRCh37)
Canonical SPDI:: NC_000002.12:46512250:T:
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46512251del, NC_000002.11:g.46739390del, XM_011533152.4:c.461del, XM_011533152.3:c.461del, XM_011533152.2:c.461del, XM_011533152.1:c.461del, XM_011533148.4:c.461del, XM_011533148.3:c.461del, XM_011533148.2:c.461del, XM_011533148.1:c.461del, XM_011533149.4:c.461del, XM_011533149.3:c.461del, XM_011533149.2:c.461del, XM_011533149.1:c.461del, XM_011533151.4:c.461del, XM_011533151.3:c.461del, XM_011533151.2:c.461del, XM_011533151.1:c.461del, NM_080653.3:c.461del, XM_017005225.2:c.461del, XM_017005225.1:c.461del, NM_001318063.2:c.461del, NM_001318063.1:c.461del, XM_047446255.1:c.461del, NM_001371281.1:c.461del, NM_001371282.1:c.461del, XM_047446256.1:c.461del, NM_001371283.1:c.461del, XM_047446257.1:c.461del, XP_011531454.1:p.Glu154fs, XP_011531450.1:p.Glu154fs, XP_011531451.1:p.Glu154fs, XP_011531453.1:p.Glu154fs, XP_016860714.1:p.Glu154fs, NP_001304992.1:p.Glu154fs, XP_047302211.1:p.Glu154fs, NP_001358210.1:p.Glu154fs, NP_001358211.1:p.Glu154fs, XP_047302212.1:p.Glu154fs, NP_001358212.1:p.Glu154fs, XP_047302213.1:p.Glu154fs

Select item 142079159818.

rs1420791598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:46512497 (GRCh38)
2:46739636 (GRCh37)
Canonical SPDI:: NC_000002.12:46512496:A:G
Gene:: ATP6V1E2 (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=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46512497A>G, NC_000002.11:g.46739636A>G, XM_011533152.4:c.215T>C, XM_011533152.3:c.215T>C, XM_011533152.2:c.215T>C, XM_011533152.1:c.215T>C, XM_011533148.4:c.215T>C, XM_011533148.3:c.215T>C, XM_011533148.2:c.215T>C, XM_011533148.1:c.215T>C, XM_011533149.4:c.215T>C, XM_011533149.3:c.215T>C, XM_011533149.2:c.215T>C, XM_011533149.1:c.215T>C, XM_011533151.4:c.215T>C, XM_011533151.3:c.215T>C, XM_011533151.2:c.215T>C, XM_011533151.1:c.215T>C, NM_080653.3:c.215T>C, XM_017005225.2:c.215T>C, XM_017005225.1:c.215T>C, NM_001318063.2:c.215T>C, NM_001318063.1:c.215T>C, XM_047446255.1:c.215T>C, NM_001371281.1:c.215T>C, NM_001371282.1:c.215T>C, XM_047446256.1:c.215T>C, NM_001371283.1:c.215T>C, XM_047446257.1:c.215T>C, XP_011531454.1:p.Met72Thr, XP_011531450.1:p.Met72Thr, XP_011531451.1:p.Met72Thr, XP_011531453.1:p.Met72Thr, XP_016860714.1:p.Met72Thr, NP_001304992.1:p.Met72Thr, XP_047302211.1:p.Met72Thr, NP_001358210.1:p.Met72Thr, NP_001358211.1:p.Met72Thr, XP_047302212.1:p.Met72Thr, NP_001358212.1:p.Met72Thr, XP_047302213.1:p.Met72Thr

Select item 141590617719.

rs1415906177 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:46512533 (GRCh38)
2:46739672 (GRCh37)
Canonical SPDI:: NC_000002.12:46512532:T:C
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46512533T>C, NC_000002.11:g.46739672T>C, XM_011533152.4:c.179A>G, XM_011533152.3:c.179A>G, XM_011533152.2:c.179A>G, XM_011533152.1:c.179A>G, XM_011533148.4:c.179A>G, XM_011533148.3:c.179A>G, XM_011533148.2:c.179A>G, XM_011533148.1:c.179A>G, XM_011533149.4:c.179A>G, XM_011533149.3:c.179A>G, XM_011533149.2:c.179A>G, XM_011533149.1:c.179A>G, XM_011533151.4:c.179A>G, XM_011533151.3:c.179A>G, XM_011533151.2:c.179A>G, XM_011533151.1:c.179A>G, NM_080653.3:c.179A>G, XM_017005225.2:c.179A>G, XM_017005225.1:c.179A>G, NM_001318063.2:c.179A>G, NM_001318063.1:c.179A>G, XM_047446255.1:c.179A>G, NM_001371281.1:c.179A>G, NM_001371282.1:c.179A>G, XM_047446256.1:c.179A>G, NM_001371283.1:c.179A>G, XM_047446257.1:c.179A>G, XP_011531454.1:p.Lys60Arg, XP_011531450.1:p.Lys60Arg, XP_011531451.1:p.Lys60Arg, XP_011531453.1:p.Lys60Arg, XP_016860714.1:p.Lys60Arg, NP_001304992.1:p.Lys60Arg, XP_047302211.1:p.Lys60Arg, NP_001358210.1:p.Lys60Arg, NP_001358211.1:p.Lys60Arg, XP_047302212.1:p.Lys60Arg, NP_001358212.1:p.Lys60Arg, XP_047302213.1:p.Lys60Arg

Select item 141236514620.

rs1412365146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46512275 (GRCh38)
2:46739414 (GRCh37)
Canonical SPDI:: NC_000002.12:46512274:G:A
Gene:: ATP6V1E2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.46512275G>A, NC_000002.11:g.46739414G>A, XM_011533152.4:c.437C>T, XM_011533152.3:c.437C>T, XM_011533152.2:c.437C>T, XM_011533152.1:c.437C>T, XM_011533148.4:c.437C>T, XM_011533148.3:c.437C>T, XM_011533148.2:c.437C>T, XM_011533148.1:c.437C>T, XM_011533149.4:c.437C>T, XM_011533149.3:c.437C>T, XM_011533149.2:c.437C>T, XM_011533149.1:c.437C>T, XM_011533151.4:c.437C>T, XM_011533151.3:c.437C>T, XM_011533151.2:c.437C>T, XM_011533151.1:c.437C>T, NM_080653.3:c.437C>T, XM_017005225.2:c.437C>T, XM_017005225.1:c.437C>T, NM_001318063.2:c.437C>T, NM_001318063.1:c.437C>T, XM_047446255.1:c.437C>T, NM_001371281.1:c.437C>T, NM_001371282.1:c.437C>T, XM_047446256.1:c.437C>T, NM_001371283.1:c.437C>T, XM_047446257.1:c.437C>T, XP_011531454.1:p.Ala146Val, XP_011531450.1:p.Ala146Val, XP_011531451.1:p.Ala146Val, XP_011531453.1:p.Ala146Val, XP_016860714.1:p.Ala146Val, NP_001304992.1:p.Ala146Val, XP_047302211.1:p.Ala146Val, NP_001358210.1:p.Ala146Val, NP_001358211.1:p.Ala146Val, XP_047302212.1:p.Ala146Val, NP_001358212.1:p.Ala146Val, XP_047302213.1:p.Ala146Val

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