Linked Data
ClinVar Variation Id:
965145
dbSNP Id:
rs1270972086
gnomAD v2:
6-56328436-T-C
gnomAD v4:
6-56463638-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56463638T>C , CM000668.2:g.56463638T>C | GRCh38 |
| NC_000006.11:g.56328436T>C , CM000668.1:g.56328436T>C | GRCh37 |
| NC_000006.10:g.56436395T>C | NCBI36 |
| NG_029322.1:g.184259A>G | |
| NG_029322.2:g.495991A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.15923A>G | ENSP00000400883.3:p.Asn5308Ser | |
| ENST00000449297.7:c.16112A>G | ENSP00000393082.3:p.Asn5371Ser | |
| ENST00000520645.6:c.15698A>G | ENSP00000431030.2:p.Asn5233Ser | |
| ENST00000340834.10:c.7571A>G | ENSP00000489032.2:p.Asn2524Ser | |
| ENST00000651289.1:c.1305A>G | ||
| ENST00000651457.1:n.4608A>G | ||
| ENST00000651790.1:c.3583A>G | ||
| ENST00000651941.1:n.7380A>G | ||
| ENST00000680361.1:c.22886A>G MANE Select | ENSP00000505098.1:p.Asn7629Ser | |
| ENST00000244364.10:c.14945A>G | ENSP00000244364.6:p.Asn4982Ser | |
| ENST00000312431.10:c.16043A>G | ENSP00000307959.7:p.Asn5348Ser | |
| ENST00000361203.7:c.21926A>G | ENSP00000354508.3:p.Asn7309Ser | |
| ENST00000370754.9:c.16457A>G | ENSP00000359790.6:p.Asn5486Ser | |
| ENST00000370788.6:c.15668A>G | ENSP00000359824.2:p.Asn5223Ser | |
| ENST00000421834.6:c.15923A>G | ENSP00000400883.3:p.Asn5308Ser | |
| ENST00000466429.5:n.679A>G | ||
| ENST00000482156.5:n.1526A>G | ||
| ENST00000523292.5:c.319A>G | ||
| ENST00000523597.1:n.359A>G | ||
| NM_001144769.2:c.16457A>G | NP_001138241.1:p.Asn5486Ser | |
| NM_001144770.1:c.16043A>G | NP_001138242.1:p.Asn5348Ser | |
| NM_015548.4:c.14945A>G | NP_056363.2:p.Asn4982Ser | |
| NM_183380.3:c.15923A>G | NP_899236.1:p.Asn5308Ser | |
| XM_005249310.2:c.22886A>G | XP_005249367.1:p.Asn7629Ser | |
| XM_005249315.2:c.22787A>G | XP_005249372.1:p.Asn7596Ser | |
| XM_005249316.1:c.22601A>G | XP_005249373.1:p.Asn7534Ser | |
| XM_005249318.1:c.22472A>G | XP_005249375.1:p.Asn7491Ser | |
| XM_005249319.1:c.22373A>G | XP_005249376.1:p.Asn7458Ser | |
| XM_005249320.3:c.22352A>G | XP_005249377.1:p.Asn7451Ser | |
| XM_005249322.3:c.22331A>G | XP_005249379.1:p.Asn7444Ser | |
| XM_005249323.2:c.22253A>G | XP_005249380.1:p.Asn7418Ser | |
| XM_005249324.1:c.21275A>G | XP_005249381.1:p.Asn7092Ser | |
| XM_011514824.1:c.22814A>G | XP_011513126.1:p.Asn7605Ser | |
| XM_011514825.1:c.16484A>G | XP_011513127.1:p.Asn5495Ser | |
| XM_011514826.1:c.21926A>G | XP_011513128.1:p.Asn7309Ser | |
| XM_005249310.4:c.22886A>G | XP_005249367.1:p.Asn7629Ser | |
| XM_005249315.3:c.22787A>G | XP_005249372.1:p.Asn7596Ser | |
| XM_005249316.3:c.22601A>G | XP_005249373.1:p.Asn7534Ser | |
| XM_005249318.2:c.22472A>G | XP_005249375.1:p.Asn7491Ser | |
| XM_005249319.2:c.22373A>G | XP_005249376.1:p.Asn7458Ser | |
| XM_005249320.4:c.22352A>G | XP_005249377.1:p.Asn7451Ser | |
| XM_005249322.5:c.22331A>G | XP_005249379.1:p.Asn7444Ser | |
| XM_005249323.4:c.22253A>G | XP_005249380.1:p.Asn7418Ser | |
| XM_005249324.3:c.21275A>G | XP_005249381.1:p.Asn7092Ser | |
| XM_011514824.2:c.22814A>G | XP_011513126.1:p.Asn7605Ser | |
| XM_011514825.3:c.16484A>G | XP_011513127.1:p.Asn5495Ser | |
| XM_011514826.3:c.21926A>G | XP_011513128.1:p.Asn7309Ser | |
| XM_017011205.1:c.22913A>G | XP_016866694.1:p.Asn7638Ser | |
| XM_017011206.1:c.22895A>G | XP_016866695.1:p.Asn7632Ser | |
| XM_017011207.1:c.22850A>G | XP_016866696.1:p.Asn7617Ser | |
| XM_017011208.1:c.22841A>G | XP_016866697.1:p.Asn7614Ser | |
| XM_017011209.1:c.22823A>G | XP_016866698.1:p.Asn7608Ser | |
| XM_017011210.1:c.22913A>G | XP_016866699.1:p.Asn7638Ser | |
| XM_017011211.2:c.22841A>G | XP_016866700.1:p.Asn7614Ser | |
| XM_017011212.1:c.22679A>G | XP_016866701.1:p.Asn7560Ser | |
| XM_017011213.1:c.22586A>G | XP_016866702.1:p.Asn7529Ser | |
| XM_017011214.2:c.22514A>G | XP_016866703.1:p.Asn7505Ser | |
| XM_017011215.2:c.22586A>G | XP_016866704.1:p.Asn7529Ser | |
| XM_017011216.2:c.22514A>G | XP_016866705.1:p.Asn7505Ser | |
| XM_017011217.1:c.22289A>G | XP_016866706.1:p.Asn7430Ser | |
| XM_017011218.1:c.17480A>G | XP_016866707.1:p.Asn5827Ser | |
| XM_017011219.1:c.16655A>G | XP_016866708.1:p.Asn5552Ser | |
| XM_017011220.1:c.16529A>G | XP_016866709.1:p.Asn5510Ser | |
| XM_017011221.1:c.16421A>G | XP_016866710.1:p.Asn5474Ser | |
| XM_017011222.2:c.16343A>G | XP_016866711.1:p.Asn5448Ser | |
| XM_017011223.1:c.16328A>G | XP_016866712.1:p.Asn5443Ser | |
| XM_017011224.2:c.15668A>G | XP_016866713.1:p.Asn5223Ser | |
| XM_024446530.1:c.22232A>G | XP_024302298.1:p.Asn7411Ser | |
| NM_001144769.5:c.16457A>G | NP_001138241.1:p.Asn5486Ser | |
| NM_001144770.2:c.16043A>G | NP_001138242.1:p.Asn5348Ser | |
| NM_001374722.1:c.22814A>G | NP_001361651.1:p.Asn7605Ser | |
| NM_001374729.1:c.21926A>G | NP_001361658.1:p.Asn7309Ser | |
| NM_001374730.1:c.15668A>G | NP_001361659.1:p.Asn5223Ser | |
| NM_001374734.1:c.22841A>G | NP_001361663.1:p.Asn7614Ser | |
| NM_001374736.1:c.22886A>G MANE Select | NP_001361665.1:p.Asn7629Ser | |
| NM_015548.5:c.14945A>G | NP_056363.2:p.Asn4982Ser | |
| NM_183380.4:c.15923A>G | NP_899236.1:p.Asn5308Ser | |
| NM_001386100.1:c.15905A>G | NP_001373029.1:p.Asn5302Ser |