Linked Data
ClinVar Variation Id:
97228
dbSNP Id:
rs72556278
COSMIC:
COSM1714876
PubMed:
PMID:11117428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401394C>T , CM000685.2:g.38401394C>T | GRCh38 |
| NC_000023.10:g.38260647C>T , CM000685.1:g.38260647C>T | GRCh37 |
| NC_000023.9:g.38145591C>T | NCBI36 |
| NG_008471.1:g.53912C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.506C>T MANE Select | ENSP00000039007.4:p.Pro169Leu | |
| ENST00000643344.1:c.*256C>T | ENSP00000496606.1:n.*256C>T | |
| ENST00000039007.4:c.506C>T | ENSP00000039007.4:p.Pro169Leu | |
| ENST00000465127.1:c.172-264727C>T | ENSP00000417050.1:n.172-264727C>T | |
| ENST00000488812.1:n.543C>T | ||
| NM_000531.5:c.506C>T | NP_000522.3:p.Pro169Leu | |
| XM_017029556.1:c.506C>T | XP_016885045.1:p.Pro169Leu | |
| NM_000531.6:c.506C>T MANE Select | NP_000522.3:p.Pro169Leu |