Linked Data
ClinVar Variation Id:
21590
dbSNP Id:
rs148294838
ExAC:
1:197073245 G / T
gnomAD v2:
1-197073245-G-T
gnomAD v3:
1-197104115-G-T
gnomAD v4:
1-197104115-G-T
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197104115G>T , CM000663.2:g.197104115G>T | GRCh38 |
| NC_000001.10:g.197073245G>T , CM000663.1:g.197073245G>T | GRCh37 |
| NC_000001.9:g.195339868G>T | NCBI36 |
| NG_015867.1:g.47580C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2108-7951C>A | ||
| ENST00000367409.9:c.5136C>A MANE Select | ENSP00000356379.4:p.Tyr1712Ter | |
| ENST00000680265.1:c.5136C>A | ENSP00000505384.1:p.Tyr1712Ter | |
| ENST00000680710.1:c.5136C>A | ENSP00000506676.1:p.Tyr1712Ter | |
| ENST00000294732.11:c.4066-7951C>A | ENSP00000294732.7:n.4066-7951C>A | |
| ENST00000367408.5:c.1816-7951C>A | ENSP00000356378.1:n.1816-7951C>A | |
| ENST00000367409.8:c.5136C>A | ENSP00000356379.4:p.Tyr1712Ter | |
| ENST00000612785.1:c.562-1468C>A | ENSP00000479244.1:n.562-1468C>A | |
| NM_001206846.1:c.4066-7951C>A | NP_001193775.1:n.4066-7951C>A | |
| NM_018136.4:c.5136C>A | NP_060606.3:p.Tyr1712Ter | |
| NM_018136.5:c.5136C>A MANE Select | NP_060606.3:p.Tyr1712Ter | |
| NM_001206846.2:c.4066-7951C>A | NP_001193775.1:n.4066-7951C>A |