Linked Data
ClinVar Variation Id:
161578
ClinVar RCV Id:
RCV000149113
dbSNP Id:
rs193921033
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12104381G>T , CM000663.2:g.12104381G>T | GRCh38 |
| NC_000001.10:g.12164438G>T , CM000663.1:g.12164438G>T | GRCh37 |
| NC_000001.9:g.12087025G>T | NCBI36 |
| NG_029573.2:g.46005G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263932.7:c.271G>T MANE Select | ENSP00000263932.2:p.Asp91Tyr | |
| ENST00000263932.6:c.271G>T | ENSP00000263932.2:p.Asp91Tyr | |
| ENST00000417814.3:c.-63G>T | ENSP00000390650.2:n.-63G>T | |
| ENST00000514649.5:c.*15G>T | ENSP00000421938.1:n.*15G>T | |
| NM_001243.4:c.271G>T | NP_001234.3:p.Asp91Tyr | |
| NM_001281430.2:c.-63G>T | NP_001268359.2:n.-63G>T | |
| XM_011542441.1:c.271G>T | XP_011540743.1:p.Asp91Tyr | |
| XM_011542442.1:c.124G>T | XP_011540744.1:p.Asp42Tyr | |
| XM_011542443.1:c.-63G>T | XP_011540745.1:n.-63G>T | |
| XM_011542444.1:c.124G>T | XP_011540746.1:p.Asp42Tyr | |
| XM_011542441.3:c.271G>T | XP_011540743.1:p.Asp91Tyr | |
| XM_011542443.2:c.-63G>T | XP_011540745.1:n.-63G>T | |
| NM_001243.5:c.271G>T MANE Select | NP_001234.3:p.Asp91Tyr | |
| NM_001281430.3:c.-63G>T | NP_001268359.2:n.-63G>T |