Linked Data
ClinVar Variation Id:
516214
dbSNP Id:
rs4837291
ExAC:
9:131397479 G / A
gnomAD v2:
9-131397479-G-A
gnomAD v3:
9-128635200-G-A
gnomAD v4:
9-128635200-G-A
COSMIC:
COSM4007061
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128635200G>A , CM000671.2:g.128635200G>A | GRCh38 |
| NC_000009.11:g.131397479G>A , CM000671.1:g.131397479G>A | GRCh37 |
| NC_000009.10:g.130437300G>A | NCBI36 |
| NG_027748.1:g.87643G>A | |
| NG_034056.1:g.26651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372715.7:c.873C>T MANE Select | ENSP00000361800.2:p.Thr291= | |
| ENST00000419989.2:c.718C>T | ENSP00000415421.1:n.718C>T | |
| ENST00000372715.6:c.873C>T | ENSP00000361800.2:p.Thr291= | |
| ENST00000480613.5:n.718C>T | ||
| ENST00000483181.1:n.466C>T | ||
| NM_052844.3:c.873C>T | NP_443076.2:p.Thr291= | |
| XM_011519179.1:c.814-25C>T | XP_011517481.1:n.814-25C>T | |
| XM_011519179.2:c.814-25C>T | XP_011517481.1:n.814-25C>T | |
| NM_052844.4:c.873C>T MANE Select | NP_443076.2:p.Thr291= |