Linked Data
ClinVar Variation Id:
97270
dbSNP Id:
rs72558411
COSMIC:
COSM1467887
PubMed:
PMID:11117428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38403690A>G , CM000685.2:g.38403690A>G | GRCh38 |
| NC_000023.10:g.38262943A>G , CM000685.1:g.38262943A>G | GRCh37 |
| NC_000023.9:g.38147887A>G | NCBI36 |
| NG_008471.1:g.56208A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.613A>G MANE Select | ENSP00000039007.4:p.Met205Val | |
| ENST00000643344.1:c.*363A>G | ENSP00000496606.1:n.*363A>G | |
| ENST00000039007.4:c.613A>G | ENSP00000039007.4:p.Met205Val | |
| ENST00000465127.1:c.172-262431A>G | ENSP00000417050.1:n.172-262431A>G | |
| NM_000531.5:c.613A>G | NP_000522.3:p.Met205Val | |
| XM_017029556.1:c.613A>G | XP_016885045.1:p.Met205Val | |
| NM_000531.6:c.613A>G MANE Select | NP_000522.3:p.Met205Val |