Linked Data
ClinVar Variation Id:
13578
ClinVar RCV Id:
RCV000014546
dbSNP Id:
rs121918031
PubMed:
PMID:9242524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160738583G>A , CM000668.2:g.160738583G>A | GRCh38 |
| NC_000006.11:g.161159615G>A , CM000668.1:g.161159615G>A | GRCh37 |
| NC_000006.10:g.161079605G>A | NCBI36 |
| NG_016200.1:g.41391G>A , LRG_571:g.41391G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297289.9:c.801G>A | ENSP00000516619.1:p.Trp267Ter | |
| ENST00000418964.2:c.1899G>A | ENSP00000389424.2:p.Trp633Ter | |
| ENST00000706906.1:c.*1868G>A | ENSP00000516618.1:n.*1868G>A | |
| ENST00000308192.14:c.1848G>A MANE Select | ENSP00000308938.9:p.Trp616Ter | |
| ENST00000308192.13:c.1848G>A | ENSP00000308938.9:p.Trp616Ter | |
| ENST00000467466.1:n.149G>A | ||
| NM_000301.3:c.1848G>A , LRG_571t1:c.1848G>A | NP_000292.1:p.Trp616Ter | |
| NM_000301.4:c.1848G>A | NP_000292.1:p.Trp616Ter | |
| NM_000301.5:c.1848G>A MANE Select | NP_000292.1:p.Trp616Ter |