SNP Links for Protein (Select 323276655) - SNP

Links from Protein

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Select item 14519742871.

rs1451974287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31545427 (GRCh38)
6:31513204 (GRCh37)
Canonical SPDI:: NC_000006.12:31545426:T:C
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31545427T>C, NC_000006.11:g.31513204T>C, NG_012344.1:g.3577T>C, NT_113891.3:g.3022757T>C, NT_113891.2:g.3022863T>C, NT_167249.2:g.2844711T>C, NT_167249.1:g.2844009T>C, NT_167246.2:g.2850480T>C, NT_167246.1:g.2856100T>C, NT_167248.2:g.2801283T>C, NT_167248.1:g.2806879T>C, NT_167245.2:g.2793197T>C, NT_167245.1:g.2798782T>C, NT_167247.2:g.2887366T>C, NT_167247.1:g.2892951T>C, NM_130463.4:c.338A>G, NM_130463.3:c.338A>G, NM_138282.3:c.215A>G, NM_138282.2:c.215A>G, NM_001204078.2:c.218A>G, NM_001204078.1:c.218A>G, NP_569730.1:p.Asn113Ser, NP_612139.1:p.Asn72Ser, NP_001191007.1:p.Asn73Ser

Select item 14487915432.

rs1448791543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31545454 (GRCh38)
6:31513231 (GRCh37)
Canonical SPDI:: NC_000006.12:31545453:C:T
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant
HGVS:: NC_000006.12:g.31545454C>T, NC_000006.11:g.31513231C>T, NG_012344.1:g.3604C>T, NT_113891.3:g.3022784C>T, NT_113891.2:g.3022890C>T, NT_167249.2:g.2844738C>T, NT_167249.1:g.2844036C>T, NT_167246.2:g.2850507C>T, NT_167246.1:g.2856127C>T, NT_167248.2:g.2801310C>T, NT_167248.1:g.2806906C>T, NT_167245.2:g.2793224C>T, NT_167245.1:g.2798809C>T, NT_167247.2:g.2887393C>T, NT_167247.1:g.2892978C>T, NM_130463.4:c.311G>A, NM_130463.3:c.311G>A, NM_138282.3:c.188G>A, NM_138282.2:c.188G>A, NM_001204078.2:c.191G>A, NM_001204078.1:c.191G>A, NP_569730.1:p.Cys104Tyr, NP_612139.1:p.Cys63Tyr, NP_001191007.1:p.Cys64Tyr

Select item 14477480743.

rs1447748074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31545523 (GRCh38)
6:31513300 (GRCh37)
Canonical SPDI:: NC_000006.12:31545522:A:C
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31545523A>C, NC_000006.11:g.31513300A>C, NG_012344.1:g.3673A>C, NT_113891.3:g.3022853A>C, NT_113891.2:g.3022959A>C, NT_167249.2:g.2844807A>C, NT_167249.1:g.2844105A>C, NT_167246.2:g.2850576A>C, NT_167246.1:g.2856196A>C, NT_167248.2:g.2801379A>C, NT_167248.1:g.2806975A>C, NT_167245.2:g.2793293A>C, NT_167245.1:g.2798878A>C, NT_167247.2:g.2887462A>C, NT_167247.1:g.2893047A>C, NM_130463.4:c.242T>G, NM_130463.3:c.242T>G, NM_138282.3:c.119T>G, NM_138282.2:c.119T>G, NM_001204078.1:c.122T>G, NM_001204078.2:c.122T>G, NP_569730.1:p.Val81Gly, NP_612139.1:p.Val40Gly, NP_001191007.1:p.Val41Gly

Select item 14303489264.

rs1430348926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31546197 (GRCh38)
6:31513974 (GRCh37)
Canonical SPDI:: NC_000006.12:31546196:C:T
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31546197C>T, NC_000006.11:g.31513974C>T, NG_012344.1:g.4347C>T, NT_113891.3:g.3023527C>T, NT_113891.2:g.3023633C>T, NT_167249.2:g.2845481C>T, NT_167249.1:g.2844779C>T, NT_167246.2:g.2851250C>T, NT_167246.1:g.2856870C>T, NT_167248.2:g.2802053C>T, NT_167248.1:g.2807649C>T, NT_167245.2:g.2793967C>T, NT_167245.1:g.2799552C>T, NT_167247.2:g.2888136C>T, NT_167247.1:g.2893721C>T, NM_130463.4:c.95G>A, NM_130463.3:c.95G>A, NM_138282.3:c.-29G>A, NM_138282.2:c.-29G>A, NM_001204078.2:c.95G>A, NM_001204078.1:c.95G>A, NR_037853.1:n.384G>A, NP_569730.1:p.Arg32Gln, NP_001191007.1:p.Arg32Gln

Select item 14299291895.

rs1429929189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31545473 (GRCh38)
6:31513250 (GRCh37)
Canonical SPDI:: NC_000006.12:31545472:G:C
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31545473G>C, NC_000006.11:g.31513250G>C, NG_012344.1:g.3623G>C, NT_113891.3:g.3022803G>C, NT_113891.2:g.3022909G>C, NT_167249.2:g.2844757G>C, NT_167249.1:g.2844055G>C, NT_167246.2:g.2850526G>C, NT_167246.1:g.2856146G>C, NT_167248.2:g.2801329G>C, NT_167248.1:g.2806925G>C, NT_167245.2:g.2793243G>C, NT_167245.1:g.2798828G>C, NT_167247.2:g.2887412G>C, NT_167247.1:g.2892997G>C, NM_130463.4:c.292C>G, NM_130463.3:c.292C>G, NM_138282.3:c.169C>G, NM_138282.2:c.169C>G, NM_001204078.1:c.172C>G, NM_001204078.2:c.172C>G, NP_569730.1:p.Gln98Glu, NP_612139.1:p.Gln57Glu, NP_001191007.1:p.Gln58Glu

Select item 14296601836.

rs1429660183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31545494 (GRCh38)
6:31513271 (GRCh37)
Canonical SPDI:: NC_000006.12:31545493:T:C
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31545494T>C, NC_000006.11:g.31513271T>C, NG_012344.1:g.3644T>C, NT_113891.3:g.3022824T>C, NT_113891.2:g.3022930T>C, NT_167249.2:g.2844778T>C, NT_167249.1:g.2844076T>C, NT_167246.2:g.2850547T>C, NT_167246.1:g.2856167T>C, NT_167248.2:g.2801350T>C, NT_167248.1:g.2806946T>C, NT_167245.2:g.2793264T>C, NT_167245.1:g.2798849T>C, NT_167247.2:g.2887433T>C, NT_167247.1:g.2893018T>C, NM_130463.4:c.271A>G, NM_130463.3:c.271A>G, NM_138282.3:c.148A>G, NM_138282.2:c.148A>G, NM_001204078.2:c.151A>G, NM_001204078.1:c.151A>G, NP_569730.1:p.Asn91Asp, NP_612139.1:p.Asn50Asp, NP_001191007.1:p.Asn51Asp

Select item 14174192477.

rs1417419247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31546545 (GRCh38)
6:31514322 (GRCh37)
Canonical SPDI:: NC_000006.12:31546544:G:C
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31546545G>C, NC_000006.11:g.31514322G>C, NG_012344.1:g.4695G>C, NT_113891.3:g.3023871G>C, NT_113891.2:g.3023977G>C, NT_167249.2:g.2845829G>C, NT_167249.1:g.2845127G>C, NT_167246.2:g.2851594G>C, NT_167246.1:g.2857214G>C, NT_167248.2:g.2802397G>C, NT_167248.1:g.2807993G>C, NT_167245.2:g.2794311G>C, NT_167245.1:g.2799896G>C, NT_167247.2:g.2888480G>C, NT_167247.1:g.2894065G>C, NM_130463.4:c.15C>G, NM_130463.3:c.15C>G, NM_001204078.2:c.15C>G, NM_001204078.1:c.15C>G, NR_037853.1:n.304C>G

Select item 14035149228.

rs1403514922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31545513 (GRCh38)
6:31513290 (GRCh37)
Canonical SPDI:: NC_000006.12:31545512:C:T
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31545513C>T, NC_000006.11:g.31513290C>T, NG_012344.1:g.3663C>T, NT_113891.3:g.3022843C>T, NT_113891.2:g.3022949C>T, NT_167249.2:g.2844797C>T, NT_167249.1:g.2844095C>T, NT_167246.2:g.2850566C>T, NT_167246.1:g.2856186C>T, NT_167248.2:g.2801369C>T, NT_167248.1:g.2806965C>T, NT_167245.2:g.2793283C>T, NT_167245.1:g.2798868C>T, NT_167247.2:g.2887452C>T, NT_167247.1:g.2893037C>T, NM_130463.4:c.252G>A, NM_130463.3:c.252G>A, NM_138282.3:c.129G>A, NM_138282.2:c.129G>A, NM_001204078.1:c.132G>A, NM_001204078.2:c.132G>A, NP_569730.1:p.Met84Ile, NP_612139.1:p.Met43Ile, NP_001191007.1:p.Met44Ile

Select item 13979990069.

rs1397999006 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31546521 (GRCh38)
6:31514298 (GRCh37)
Canonical SPDI:: NC_000006.12:31546520:T:C
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.31546521T>C, NC_000006.11:g.31514298T>C, NG_012344.1:g.4671T>C, NT_113891.3:g.3023847T>C, NT_113891.2:g.3023953T>C, NT_167249.2:g.2845805T>C, NT_167249.1:g.2845103T>C, NT_167246.2:g.2851570T>C, NT_167246.1:g.2857190T>C, NT_167248.2:g.2802373T>C, NT_167248.1:g.2807969T>C, NT_167245.2:g.2794287T>C, NT_167245.1:g.2799872T>C, NT_167247.2:g.2888456T>C, NT_167247.1:g.2894041T>C, NM_130463.4:c.39A>G, NM_130463.3:c.39A>G, NM_001204078.2:c.39A>G, NM_001204078.1:c.39A>G, NR_037853.1:n.328A>G

Select item 138668161010.

rs1386681610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31546480 (GRCh38)
6:31514257 (GRCh37)
Canonical SPDI:: NC_000006.12:31546479:T:C
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31546480T>C, NC_000006.11:g.31514257T>C, NG_012344.1:g.4630T>C, NT_113891.3:g.3023806T>C, NT_113891.2:g.3023912T>C, NT_167249.2:g.2845764T>C, NT_167249.1:g.2845062T>C, NT_167246.2:g.2851529T>C, NT_167246.1:g.2857149T>C, NT_167248.2:g.2802332T>C, NT_167248.1:g.2807928T>C, NT_167245.2:g.2794246T>C, NT_167245.1:g.2799831T>C, NT_167247.2:g.2888415T>C, NT_167247.1:g.2894000T>C, NM_130463.4:c.80A>G, NM_130463.3:c.80A>G, NM_001204078.1:c.80A>G, NM_001204078.2:c.80A>G, NR_037853.1:n.369A>G, NP_569730.1:p.Lys27Arg, NP_001191007.1:p.Lys27Arg

Select item 134418278811.

rs1344182788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31545539 (GRCh38)
6:31513316 (GRCh37)
Canonical SPDI:: NC_000006.12:31545538:C:T
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31545539C>T, NC_000006.11:g.31513316C>T, NG_012344.1:g.3689C>T, NT_113891.3:g.3022869C>T, NT_113891.2:g.3022975C>T, NT_167249.2:g.2844823C>T, NT_167249.1:g.2844121C>T, NT_167246.2:g.2850592C>T, NT_167246.1:g.2856212C>T, NT_167248.2:g.2801395C>T, NT_167248.1:g.2806991C>T, NT_167245.2:g.2793309C>T, NT_167245.1:g.2798894C>T, NT_167247.2:g.2887478C>T, NT_167247.1:g.2893063C>T, NM_130463.4:c.226G>A, NM_130463.3:c.226G>A, NM_138282.3:c.103G>A, NM_138282.2:c.103G>A, NM_001204078.2:c.106G>A, NM_001204078.1:c.106G>A, NP_569730.1:p.Ala76Thr, NP_612139.1:p.Ala35Thr, NP_001191007.1:p.Ala36Thr

Select item 131468530212.

rs1314685302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:31546479 (GRCh38)
6:31514256 (GRCh37)
Canonical SPDI:: NC_000006.12:31546478:C:G,NC_000006.12:31546478:C:T
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31546479C>G, NC_000006.12:g.31546479C>T, NC_000006.11:g.31514256C>G, NC_000006.11:g.31514256C>T, NG_012344.1:g.4629C>G, NG_012344.1:g.4629C>T, NT_113891.3:g.3023805C>G, NT_113891.3:g.3023805C>T, NT_113891.2:g.3023911C>G, NT_113891.2:g.3023911C>T, NT_167249.2:g.2845763C>G, NT_167249.2:g.2845763C>T, NT_167249.1:g.2845061C>G, NT_167249.1:g.2845061C>T, NT_167246.2:g.2851528C>G, NT_167246.2:g.2851528C>T, NT_167246.1:g.2857148C>G, NT_167246.1:g.2857148C>T, NT_167248.2:g.2802331C>G, NT_167248.2:g.2802331C>T, NT_167248.1:g.2807927C>G, NT_167248.1:g.2807927C>T, NT_167245.2:g.2794245C>G, NT_167245.2:g.2794245C>T, NT_167245.1:g.2799830C>G, NT_167245.1:g.2799830C>T, NT_167247.2:g.2888414C>G, NT_167247.2:g.2888414C>T, NT_167247.1:g.2893999C>G, NT_167247.1:g.2893999C>T, NM_130463.4:c.81G>C, NM_130463.4:c.81G>A, NM_130463.3:c.81G>C, NM_130463.3:c.81G>A, NM_001204078.2:c.81G>C, NM_001204078.2:c.81G>A, NM_001204078.1:c.81G>C, NM_001204078.1:c.81G>A, NR_037853.1:n.370G>C, NR_037853.1:n.370G>A, NP_569730.1:p.Lys27Asn, NP_001191007.1:p.Lys27Asn

Select item 130530375413.

rs1305303754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31545525 (GRCh38)
6:31513302 (GRCh37)
Canonical SPDI:: NC_000006.12:31545524:C:G
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31545525C>G, NC_000006.11:g.31513302C>G, NG_012344.1:g.3675C>G, NT_113891.3:g.3022855C>G, NT_113891.2:g.3022961C>G, NT_167249.2:g.2844809C>G, NT_167249.1:g.2844107C>G, NT_167246.2:g.2850578C>G, NT_167246.1:g.2856198C>G, NT_167248.2:g.2801381C>G, NT_167248.1:g.2806977C>G, NT_167245.2:g.2793295C>G, NT_167245.1:g.2798880C>G, NT_167247.2:g.2887464C>G, NT_167247.1:g.2893049C>G, NM_130463.4:c.240G>C, NM_130463.3:c.240G>C, NM_138282.3:c.117G>C, NM_138282.2:c.117G>C, NM_001204078.2:c.120G>C, NM_001204078.1:c.120G>C, NP_569730.1:p.Gln80His, NP_612139.1:p.Gln39His, NP_001191007.1:p.Gln40His

Select item 130249338414.

rs1302493384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31546504 (GRCh38)
6:31514281 (GRCh37)
Canonical SPDI:: NC_000006.12:31546503:G:C
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.31546504G>C, NC_000006.11:g.31514281G>C, NG_012344.1:g.4654G>C, NT_113891.3:g.3023830G>C, NT_113891.2:g.3023936G>C, NT_167249.2:g.2845788G>C, NT_167249.1:g.2845086G>C, NT_167246.2:g.2851553G>C, NT_167246.1:g.2857173G>C, NT_167248.2:g.2802356G>C, NT_167248.1:g.2807952G>C, NT_167245.2:g.2794270G>C, NT_167245.1:g.2799855G>C, NT_167247.2:g.2888439G>C, NT_167247.1:g.2894024G>C, NM_130463.4:c.56C>G, NM_130463.3:c.56C>G, NM_001204078.1:c.56C>G, NM_001204078.2:c.56C>G, NR_037853.1:n.345C>G, NP_569730.1:p.Ala19Gly, NP_001191007.1:p.Ala19Gly

Select item 128966188715.

rs1289661887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31546187 (GRCh38)
6:31513964 (GRCh37)
Canonical SPDI:: NC_000006.12:31546186:C:T
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31546187C>T, NC_000006.11:g.31513964C>T, NG_012344.1:g.4337C>T, NT_113891.3:g.3023517C>T, NT_113891.2:g.3023623C>T, NT_167249.2:g.2845471C>T, NT_167249.1:g.2844769C>T, NT_167246.2:g.2851240C>T, NT_167246.1:g.2856860C>T, NT_167248.2:g.2802043C>T, NT_167248.1:g.2807639C>T, NT_167245.2:g.2793957C>T, NT_167245.1:g.2799542C>T, NT_167247.2:g.2888126C>T, NT_167247.1:g.2893711C>T, NM_130463.4:c.105G>A, NM_130463.3:c.105G>A, NM_138282.3:c.-19G>A, NM_138282.2:c.-19G>A, NM_001204078.2:c.105G>A, NM_001204078.1:c.105G>A, NR_037853.1:n.394G>A

Select item 128944349716.

rs1289443497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31545536 (GRCh38)
6:31513313 (GRCh37)
Canonical SPDI:: NC_000006.12:31545535:T:C
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31545536T>C, NC_000006.11:g.31513313T>C, NG_012344.1:g.3686T>C, NT_113891.3:g.3022866T>C, NT_113891.2:g.3022972T>C, NT_167249.2:g.2844820T>C, NT_167249.1:g.2844118T>C, NT_167246.2:g.2850589T>C, NT_167246.1:g.2856209T>C, NT_167248.2:g.2801392T>C, NT_167248.1:g.2806988T>C, NT_167245.2:g.2793306T>C, NT_167245.1:g.2798891T>C, NT_167247.2:g.2887475T>C, NT_167247.1:g.2893060T>C, NM_130463.4:c.229A>G, NM_130463.3:c.229A>G, NM_138282.3:c.106A>G, NM_138282.2:c.106A>G, NM_001204078.2:c.109A>G, NM_001204078.1:c.109A>G, NP_569730.1:p.Thr77Ala, NP_612139.1:p.Thr36Ala, NP_001191007.1:p.Thr37Ala

Select item 127828408317.

rs1278284083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31545530 (GRCh38)
6:31513307 (GRCh37)
Canonical SPDI:: NC_000006.12:31545529:G:A
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
A=0.000071/2 (TOMMO)
HGVS:: NC_000006.12:g.31545530G>A, NC_000006.11:g.31513307G>A, NG_012344.1:g.3680G>A, NT_113891.3:g.3022860G>A, NT_113891.2:g.3022966G>A, NT_167249.2:g.2844814G>A, NT_167249.1:g.2844112G>A, NT_167246.2:g.2850583G>A, NT_167246.1:g.2856203G>A, NT_167248.2:g.2801386G>A, NT_167248.1:g.2806982G>A, NT_167245.2:g.2793300G>A, NT_167245.1:g.2798885G>A, NT_167247.2:g.2887469G>A, NT_167247.1:g.2893054G>A, NM_130463.4:c.235C>T, NM_130463.3:c.235C>T, NM_138282.3:c.112C>T, NM_138282.2:c.112C>T, NM_001204078.1:c.115C>T, NM_001204078.2:c.115C>T, NP_569730.1:p.Arg79Cys, NP_612139.1:p.Arg38Cys, NP_001191007.1:p.Arg39Cys

Select item 127385464818.

rs1273854648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31545432 (GRCh38)
6:31513209 (GRCh37)
Canonical SPDI:: NC_000006.12:31545431:G:A
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31545432G>A, NC_000006.11:g.31513209G>A, NG_012344.1:g.3582G>A, NT_113891.3:g.3022762G>A, NT_113891.2:g.3022868G>A, NT_167249.2:g.2844716G>A, NT_167249.1:g.2844014G>A, NT_167246.2:g.2850485G>A, NT_167246.1:g.2856105G>A, NT_167248.2:g.2801288G>A, NT_167248.1:g.2806884G>A, NT_167245.2:g.2793202G>A, NT_167245.1:g.2798787G>A, NT_167247.2:g.2887371G>A, NT_167247.1:g.2892956G>A, NM_130463.4:c.333C>T, NM_130463.3:c.333C>T, NM_138282.3:c.210C>T, NM_138282.2:c.210C>T, NM_001204078.1:c.213C>T, NM_001204078.2:c.213C>T

Select item 126097014619.

rs1260970146 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31546488 (GRCh38)
6:31514265 (GRCh37)
Canonical SPDI:: NC_000006.12:31546487:A:C
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_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=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31546488A>C, NC_000006.11:g.31514265A>C, NG_012344.1:g.4638A>C, NT_113891.3:g.3023814A>C, NT_113891.2:g.3023920A>C, NT_167249.2:g.2845772A>C, NT_167249.1:g.2845070A>C, NT_167246.2:g.2851537A>C, NT_167246.1:g.2857157A>C, NT_167248.2:g.2802340A>C, NT_167248.1:g.2807936A>C, NT_167245.2:g.2794254A>C, NT_167245.1:g.2799839A>C, NT_167247.2:g.2888423A>C, NT_167247.1:g.2894008A>C, NM_130463.4:c.72T>G, NM_130463.3:c.72T>G, NM_001204078.2:c.72T>G, NM_001204078.1:c.72T>G, NR_037853.1:n.361T>G, NP_569730.1:p.Asp24Glu, NP_001191007.1:p.Asp24Glu

Select item 124047661920.

rs1240476619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31546482 (GRCh38)
6:31514259 (GRCh37)
Canonical SPDI:: NC_000006.12:31546481:T:C
Gene:: ATP6V1G2 (Varview), NFKBIL1 (Varview), ATP6V1G2-DDX39B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31546482T>C, NC_000006.11:g.31514259T>C, NG_012344.1:g.4632T>C, NT_113891.3:g.3023808T>C, NT_113891.2:g.3023914T>C, NT_167249.2:g.2845766T>C, NT_167249.1:g.2845064T>C, NT_167246.2:g.2851531T>C, NT_167246.1:g.2857151T>C, NT_167248.2:g.2802334T>C, NT_167248.1:g.2807930T>C, NT_167245.2:g.2794248T>C, NT_167245.1:g.2799833T>C, NT_167247.2:g.2888417T>C, NT_167247.1:g.2894002T>C, NM_130463.4:c.78A>G, NM_130463.3:c.78A>G, NM_001204078.2:c.78A>G, NM_001204078.1:c.78A>G, NR_037853.1:n.367A>G

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