Linked Data
ClinVar Variation Id:
1685871
ClinVar RCV Id:
RCV002250038
dbSNP Id:
rs2147455888
COSMIC:
COSM3536495
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48419720C>T , CM000681.2:g.48419720C>T | GRCh38 |
| NC_000019.9:g.48922977C>T , CM000681.1:g.48922977C>T | GRCh37 |
| NC_000019.8:g.53614789C>T | NCBI36 |
| NG_052829.1:g.29846C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263269.4:c.1997C>T MANE Select | ENSP00000263269.2:p.Ala666Val | |
| ENST00000263269.3:c.1997C>T | ENSP00000263269.2:p.Ala666Val | |
| NM_000836.2:c.1997C>T | NP_000827.2:p.Ala666Val | |
| XM_011526872.1:c.1997C>T | XP_011525174.1:p.Ala666Val | |
| NM_000836.4:c.1997C>T MANE Select | NP_000827.2:p.Ala666Val |