Linked Data
ClinVar Variation Id:
161853
ClinVar RCV Id:
RCV000149389
dbSNP Id:
rs193921067
COSMIC:
COSM5521425
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70204426C>A , CM000685.2:g.70204426C>A | GRCh38 |
| NC_000023.10:g.69424276C>A , CM000685.1:g.69424276C>A | GRCh37 |
| NC_000023.9:g.69341001C>A | NCBI36 |
| NG_046940.1:g.31944C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333026.4:c.769C>A MANE Select | ENSP00000328036.3:p.Leu257Met | |
| ENST00000333026.3:c.769C>A | ENSP00000328036.3:p.Leu257Met | |
| NM_198512.2:c.769C>A | NP_940914.1:p.Leu257Met | |
| XM_011530947.1:c.307C>A | XP_011529249.1:p.Leu103Met | |
| NM_198512.3:c.769C>A MANE Select | NP_940914.1:p.Leu257Met |