Linked Data
ClinVar Variation Id:
307749
dbSNP Id:
rs148573953
ExAC:
12:13768133 G / A
gnomAD v2:
12-13768133-G-A
gnomAD v3:
12-13615199-G-A
gnomAD v4:
12-13615199-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13615199G>A , CM000674.2:g.13615199G>A | GRCh38 |
| NC_000012.11:g.13768133G>A , CM000674.1:g.13768133G>A | GRCh37 |
| NC_000012.10:g.13659400G>A | NCBI36 |
| NG_031854.1:g.369890C>T | |
| NG_031854.2:g.371814C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.1569C>T MANE Select | ENSP00000477455.1:p.Val523= | |
| ENST00000609686.3:c.1569C>T | ENSP00000477455.1:p.Val523= | |
| NM_000834.3:c.1569C>T | NP_000825.2:p.Val523= | |
| XM_011520628.1:c.1569C>T | XP_011518930.1:p.Val523= | |
| XM_011520629.1:c.1569C>T | XP_011518931.1:p.Val523= | |
| XM_011520630.1:c.1569C>T | XP_011518932.1:p.Val523= | |
| XR_931372.1:n.280G>A | ||
| XR_931373.1:n.420G>A | ||
| XR_931374.1:n.219G>A | ||
| NM_000834.4:c.1569C>T | NP_000825.2:p.Val523= | |
| XM_011520628.2:c.1569C>T | XP_011518930.1:p.Val523= | |
| XM_011520629.2:c.1569C>T | XP_011518931.1:p.Val523= | |
| XM_017019219.2:c.1569C>T | XP_016874708.1:p.Val523= | |
| XR_001749013.1:n.701G>A | ||
| XR_931372.2:n.417G>A | ||
| XR_931373.2:n.559G>A | ||
| NM_000834.5:c.1569C>T MANE Select | NP_000825.2:p.Val523= |