Linked Data
ClinVar Variation Id:
1491
ClinVar RCV Id:
RCV000001556
dbSNP Id:
rs118204027
PubMed:
PMID:16385458
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37724297C>T , CM000684.2:g.37724297C>T | GRCh38 |
| NC_000022.10:g.38120304C>T , CM000684.1:g.38120304C>T | GRCh37 |
| NC_000022.9:g.36450250C>T | NCBI36 |
| NG_012857.1:g.32310C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644935.1:c.1741C>T MANE Select | ENSP00000496394.1:p.Gln581Ter | |
| ENST00000344404.10:c.*1224C>T | ENSP00000340312.6:n.*1224C>T | |
| ENST00000406386.7:c.1741C>T | ENSP00000384312.3:p.Gln581Ter | |
| ENST00000455236.4:c.2698C>T | ENSP00000477208.1:n.2698C>T | |
| ENST00000492485.5:n.1675C>T | ||
| NM_001039141.2:c.1741C>T | NP_001034230.1:p.Gln581Ter | |
| NM_001039141.3:c.1741C>T MANE Select | NP_001034230.1:p.Gln581Ter |