Linked Data
ClinVar Variation Id:
161575
ClinVar RCV Id:
RCV000149110
dbSNP Id:
rs193921000
COSMIC:
COSM1178810
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30398874C>T , CM000678.2:g.30398874C>T | GRCh38 |
| NC_000016.9:g.30410195C>T , CM000678.1:g.30410195C>T | GRCh37 |
| NC_000016.8:g.30317696C>T | NCBI36 |
| NG_050732.1:g.25563C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613509.2:c.1624C>T MANE Select | ENSP00000480262.1:p.Pro542Ser | |
| ENST00000622647.3:c.1255C>T | ENSP00000479658.1:p.Pro419Ser | |
| ENST00000320159.2:c.1624C>T | ENSP00000324056.2:p.Pro542Ser | |
| ENST00000612608.4:c.1624C>T | ENSP00000483937.1:p.Pro542Ser | |
| ENST00000613509.1:c.1624C>T | ENSP00000480262.1:p.Pro542Ser | |
| ENST00000622647.1:c.1255C>T | ENSP00000479658.1:p.Pro419Ser | |
| NM_001214906.1:c.1624C>T | NP_001201835.1:p.Pro542Ser | |
| NM_001214907.1:c.1255C>T | NP_001201836.1:p.Pro419Ser | |
| NM_001214909.1:c.1624C>T | NP_001201838.1:p.Pro542Ser | |
| NM_152652.2:c.1624C>T | NP_689865.2:p.Pro542Ser | |
| NM_001324494.1:c.1255C>T | NP_001311423.1:p.Pro419Ser | |
| NM_001214909.2:c.1624C>T MANE Select | NP_001201838.1:p.Pro542Ser | |
| NM_001324494.2:c.1255C>T | NP_001311423.1:p.Pro419Ser | |
| NM_152652.3:c.1624C>T | NP_689865.2:p.Pro542Ser |