Linked Data
ClinVar Variation Id:
88750
ClinVar RCV Id:
RCV000074401
dbSNP Id:
rs397518475
PubMed:
PMID:24075184
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851241G>A , CM000668.2:g.131851241G>A | GRCh38 |
| NC_000006.11:g.132172381G>A , CM000668.1:g.132172381G>A | GRCh37 |
| NC_000006.10:g.132214074G>A | NCBI36 |
| NG_008206.1:g.48226G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.530G>A MANE Select | ENSP00000498074.1:p.Cys177Tyr | |
| ENST00000650147.1:c.208G>A | ||
| ENST00000650437.1:c.108+1135G>A | ||
| ENST00000360971.6:c.530G>A | ENSP00000354238.2:p.Cys177Tyr | |
| ENST00000486853.1:n.550G>A | ||
| ENST00000513998.5:c.530G>A | ENSP00000422424.1:p.Cys177Tyr | |
| NM_006208.2:c.530G>A | NP_006199.2:p.Cys177Tyr | |
| NM_006208.3:c.530G>A MANE Select | NP_006199.2:p.Cys177Tyr |