Linked Data
ClinVar Variation Id:
157511
ClinVar RCV Id:
RCV002269927
dbSNP Id:
rs606231257
PubMed:
PMID:23933735
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17594245G>T , CM000672.2:g.17594245G>T | GRCh38 |
| NC_000010.10:g.17636244G>T , CM000672.1:g.17636244G>T | GRCh37 |
| NC_000010.9:g.17676250G>T | NCBI36 |
| NG_041789.1:g.28130C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361271.8:c.744C>A MANE Select | ENSP00000355308.3:p.Tyr248Ter | |
| ENST00000361271.7:c.744C>A | ENSP00000355308.3:p.Tyr248Ter | |
| ENST00000471481.1:n.530C>A | ||
| ENST00000498812.5:c.247C>A | ENSP00000462868.1:n.247C>A | |
| NM_014241.3:c.744C>A | NP_055056.3:p.Tyr248Ter | |
| XM_005252641.3:c.636C>A | XP_005252698.1:p.Tyr212Ter | |
| XM_005252641.4:c.636C>A | XP_005252698.1:p.Tyr212Ter | |
| NM_014241.4:c.744C>A MANE Select | NP_055056.3:p.Tyr248Ter |