Linked Data
ClinVar Variation Id:
212362
dbSNP Id:
rs780157180
ExAC:
1:43886430 A / G
gnomAD v2:
1-43886430-A-G
gnomAD v3:
1-43420759-A-G
gnomAD v4:
1-43420759-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43420759A>G , CM000663.2:g.43420759A>G | GRCh38 |
| NC_000001.10:g.43886430A>G , CM000663.1:g.43886430A>G | GRCh37 |
| NC_000001.9:g.43659017A>G | NCBI36 |
| NG_029091.1:g.35875A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000562955.2:c.1272A>G | ENSP00000457168.1:p.Gln424= | |
| ENST00000634258.3:c.1272A>G MANE Select | ENSP00000489255.1:p.Gln424= | |
| ENST00000639852.1:c.938A>G | ENSP00000492385.1:p.Asn313Ser | |
| ENST00000470139.1:n.3A>G | ||
| ENST00000562955.1:c.1272A>G | ENSP00000457168.1:p.Gln424= | |
| ENST00000634258.1:c.1272A>G | ENSP00000489255.1:p.Gln424= | |
| NM_015284.3:c.1272A>G | NP_056099.3:p.Gln424= | |
| XM_005270686.2:c.1335A>G | XP_005270743.1:p.Gln445= | |
| XM_006710501.2:c.1272A>G | XP_006710564.1:p.Gln424= | |
| XM_011541103.1:c.1389A>G | XP_011539405.1:p.Gln463= | |
| XM_011541104.1:c.1218A>G | XP_011539406.1:p.Gln406= | |
| XM_011541105.1:c.1215A>G | XP_011539407.1:p.Gln405= | |
| XM_011541106.1:c.1215A>G | XP_011539408.1:p.Gln405= | |
| XM_011541107.1:c.816A>G | XP_011539409.1:p.Gln272= | |
| NM_001365999.1:c.1272A>G MANE Select | NP_001352928.1:p.Gln424= | |
| XM_005270686.3:c.1335A>G | XP_005270743.1:p.Gln445= | |
| XM_011541106.3:c.1215A>G | XP_011539408.1:p.Gln405= | |
| XM_011541107.2:c.816A>G | XP_011539409.1:p.Gln272= | |
| XM_017000819.1:c.1335A>G | XP_016856308.1:p.Gln445= | |
| XM_017000820.1:c.1164A>G | XP_016856309.1:p.Gln388= | |
| XM_017000821.1:c.-37A>G | XP_016856310.1:n.-37A>G | |
| XR_001737075.1:n.1418A>G | ||
| XR_001737076.1:n.1420A>G | ||
| XR_001737077.1:n.1420A>G | ||
| XR_002956151.1:n.1418A>G | ||
| NM_015284.4:c.1272A>G | NP_056099.3:p.Gln424= |