Linked Data
ClinVar Variation Id:
15866
ClinVar RCV Id:
RCV000017212
dbSNP Id:
rs34733452
COSMIC:
COSM4410217
PubMed:
PMID:8537232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177030C>T , CM000678.2:g.177030C>T | GRCh38 |
| NC_000016.9:g.227029C>T , CM000678.1:g.227029C>T | GRCh37 |
| NC_000016.8:g.167029C>T | NCBI36 |
| NG_000006.1:g.37893C>T | |
| NG_059186.1:g.5380C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.197C>T MANE Select | ENSP00000322421.5:p.Ala66Val | |
| ENST00000397797.1:c.101C>T | ENSP00000380899.1:p.Ala34Val | |
| ENST00000472694.1:n.333C>T | ||
| ENST00000487791.1:n.166C>T | ||
| NM_000558.4:c.197C>T | NP_000549.1:p.Ala66Val | |
| NM_000558.5:c.197C>T MANE Select | NP_000549.1:p.Ala66Val |