Linked Data
ClinVar Variation Id:
986370
ClinVar RCV Id:
RCV001267693
dbSNP Id:
rs201621364
COSMIC:
COSM4680081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133366027C>T , CM000672.2:g.133366027C>T | GRCh38 |
| NC_000010.10:g.135179531C>T , CM000672.1:g.135179531C>T | GRCh37 |
| NC_000010.9:g.135029521C>T | NCBI36 |
| NG_042077.1:g.12378G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.688G>A MANE Select | ENSP00000357535.3:p.Ala230Thr | |
| ENST00000368547.3:c.688G>A | ENSP00000357535.3:p.Ala230Thr | |
| NM_004092.3:c.688G>A | NP_004083.3:p.Ala230Thr | |
| XR_002956965.1:n.1544G>A | ||
| NM_004092.4:c.688G>A MANE Select | NP_004083.3:p.Ala230Thr |