Linked Data
ClinVar Variation Id:
97358
ClinVar RCV Id:
RCV000083606
dbSNP Id:
rs72558464
PubMed:
PMID:9266388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411902G>A , CM000685.2:g.38411902G>A | GRCh38 |
| NC_000023.10:g.38271155G>A , CM000685.1:g.38271155G>A | GRCh37 |
| NC_000023.9:g.38156099G>A | NCBI36 |
| NG_008471.1:g.64420G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.908G>A MANE Select | ENSP00000039007.4:p.Cys303Tyr | |
| ENST00000643344.1:c.*658G>A | ENSP00000496606.1:n.*658G>A | |
| ENST00000039007.4:c.908G>A | ENSP00000039007.4:p.Cys303Tyr | |
| ENST00000465127.1:c.172-254219G>A | ENSP00000417050.1:n.172-254219G>A | |
| NM_000531.5:c.908G>A | NP_000522.3:p.Cys303Tyr | |
| NM_000531.6:c.908G>A MANE Select | NP_000522.3:p.Cys303Tyr |