Linked Data
ClinVar Variation Id:
1164035
ClinVar RCV Id:
RCV001788518
dbSNP Id:
rs2143246033
COSMIC:
COSM983753
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122816C>T , CM000679.2:g.72122816C>T | GRCh38 |
| NC_000017.10:g.70118957C>T , CM000679.1:g.70118957C>T | GRCh37 |
| NC_000017.9:g.67630552C>T | NCBI36 |
| NG_012490.1:g.6797C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.529C>T MANE Select | ENSP00000245479.2:p.Arg177Trp | |
| ENST00000245479.2:c.529C>T | ENSP00000245479.2:p.Arg177Trp | |
| NM_000346.3:c.529C>T | NP_000337.1:p.Arg177Trp | |
| NM_000346.4:c.529C>T MANE Select | NP_000337.1:p.Arg177Trp |