Linked Data
ClinVar Variation Id:
375276
ClinVar RCV Id:
RCV000416337
dbSNP Id:
rs1057519322
COSMIC:
COSM4856776
PubMed:
PMID:28274275
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3193404C>T , CM000681.2:g.3193404C>T | GRCh38 |
| NC_000019.9:g.3193402C>T , CM000681.1:g.3193402C>T | GRCh37 |
| NC_000019.8:g.3144402C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246117.9:c.496C>T MANE Select | ENSP00000246117.3:p.Gln166Ter | |
| ENST00000246117.8:c.496C>T | ENSP00000246117.3:p.Gln166Ter | |
| ENST00000588428.5:c.185-2779C>T | ENSP00000467011.1:n.185-2779C>T | |
| ENST00000590671.5:c.274C>T | ENSP00000466678.1:p.Gln92Ter | |
| NM_020170.3:c.496C>T | NP_064555.2:p.Gln166Ter | |
| XM_005259596.1:c.496C>T | XP_005259653.1:p.Gln166Ter | |
| NM_001321463.1:c.496C>T | NP_001308392.1:p.Gln166Ter | |
| NM_020170.4:c.496C>T MANE Select | NP_064555.2:p.Gln166Ter | |
| NM_001321463.2:c.496C>T | NP_001308392.1:p.Gln166Ter |