Linked Data
ClinVar Variation Id:
9184
ClinVar RCV Id:
RCV000009762
dbSNP Id:
rs137852651
PubMed:
PMID:7670471
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786051C>T , CM000681.2:g.18786051C>T | GRCh38 |
| NC_000019.9:g.18896861C>T , CM000681.1:g.18896861C>T | GRCh37 |
| NC_000019.8:g.18757861C>T | NCBI36 |
| NG_007070.1:g.10254G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222271.7:c.1403G>A MANE Select | ENSP00000222271.2:p.Cys468Tyr | |
| ENST00000222271.6:c.1403G>A | ENSP00000222271.2:p.Cys468Tyr | |
| ENST00000425807.1:c.1244G>A | ENSP00000403792.1:p.Cys415Tyr | |
| ENST00000542601.6:c.1304G>A | ENSP00000439156.2:p.Cys435Tyr | |
| NM_000095.2:c.1403G>A | NP_000086.2:p.Cys468Tyr | |
| NM_000095.3:c.1403G>A MANE Select | NP_000086.2:p.Cys468Tyr |