Linked Data
ClinVar Variation Id:
161663
ClinVar RCV Id:
RCV000149199
dbSNP Id:
rs193921118
COSMIC:
COSM1179490
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70554544G>T , CM000678.2:g.70554544G>T | GRCh38 |
| NC_000016.9:g.70588447G>T , CM000678.1:g.70588447G>T | GRCh37 |
| NC_000016.8:g.69145948G>T | NCBI36 |
| NG_046937.1:g.35757G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302516.10:c.1501G>T MANE Select | ENSP00000305790.5:p.Gly501Trp | |
| ENST00000302516.9:c.1501G>T | ENSP00000305790.5:p.Gly501Trp | |
| ENST00000567250.5:n.575G>T | ||
| ENST00000567635.5:c.393G>T | ENSP00000463253.1:n.393G>T | |
| ENST00000568291.2:n.439G>T | ||
| NM_012426.4:c.1501G>T | NP_036558.3:p.Gly501Trp | |
| NM_012426.5:c.1501G>T MANE Select | NP_036558.3:p.Gly501Trp |