Linked Data
ClinVar Variation Id:
161498
ClinVar RCV Id:
RCV000149032
dbSNP Id:
rs193920890
COSMIC:
COSM1179927
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152760413T>A , CM000663.2:g.152760413T>A | GRCh38 |
| NC_000001.10:g.152732889T>A , CM000663.1:g.152732889T>A | GRCh37 |
| NC_000001.9:g.150999513T>A | NCBI36 |
| NG_051190.1:g.7384T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606109.2:c.825T>A MANE Select | ENSP00000475216.1:p.Phe275Leu | |
| ENST00000606109.1:c.825T>A | ENSP00000475216.1:p.Phe275Leu | |
| NM_001025231.1:c.825T>A | NP_001020402.1:p.Phe275Leu | |
| XM_011509571.1:c.825T>A | XP_011507873.1:p.Phe275Leu | |
| NM_001025231.2:c.825T>A | NP_001020402.1:p.Phe275Leu | |
| NM_001025231.3:c.825T>A MANE Select | NP_001020402.1:p.Phe275Leu |