Linked Data
ClinVar Variation Id:
21639
ClinVar RCV Id:
RCV000020829
dbSNP Id:
rs199422198
gnomAD v4:
1-197090236-A-T
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090236A>T , CM000663.2:g.197090236A>T | GRCh38 |
| NC_000001.10:g.197059366A>T , CM000663.1:g.197059366A>T | GRCh37 |
| NC_000001.9:g.195325989A>T | NCBI36 |
| NG_015867.1:g.61459T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.3076T>A | ||
| ENST00000367409.9:c.9789T>A MANE Select | ENSP00000356379.4:p.Tyr3263Ter | |
| ENST00000680265.1:c.10011T>A | ENSP00000505384.1:p.Tyr3337Ter | |
| ENST00000680710.1:c.9765T>A | ENSP00000506676.1:p.Tyr3255Ter | |
| ENST00000294732.11:c.5034T>A | ENSP00000294732.7:p.Tyr1678Ter | |
| ENST00000367408.5:c.2784T>A | ENSP00000356378.1:p.Tyr928Ter | |
| ENST00000367409.8:c.9789T>A | ENSP00000356379.4:p.Tyr3263Ter | |
| ENST00000612785.1:c.3747T>A | ENSP00000479244.1:p.Tyr1249Ter | |
| NM_001206846.1:c.5034T>A | NP_001193775.1:p.Tyr1678Ter | |
| NM_018136.4:c.9789T>A | NP_060606.3:p.Tyr3263Ter | |
| NM_018136.5:c.9789T>A MANE Select | NP_060606.3:p.Tyr3263Ter | |
| NM_001206846.2:c.5034T>A | NP_001193775.1:p.Tyr1678Ter |