Linked Data
ClinVar Variation Id:
9183
ClinVar RCV Id:
RCV000009761
dbSNP Id:
rs137852650
PubMed:
PMID:7670471
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786040C>A , CM000681.2:g.18786040C>A | GRCh38 |
| NC_000019.9:g.18896850C>A , CM000681.1:g.18896850C>A | GRCh37 |
| NC_000019.8:g.18757850C>A | NCBI36 |
| NG_007070.1:g.10265G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1414G>T MANE Select | ENSP00000222271.2:p.Asp472Tyr | |
| ENST00000222271.6:c.1414G>T | ENSP00000222271.2:p.Asp472Tyr | |
| ENST00000425807.1:c.1255G>T | ENSP00000403792.1:p.Asp419Tyr | |
| ENST00000542601.6:c.1315G>T | ENSP00000439156.2:p.Asp439Tyr | |
| NM_000095.2:c.1414G>T | NP_000086.2:p.Asp472Tyr | |
| NM_000095.3:c.1414G>T MANE Select | NP_000086.2:p.Asp472Tyr |