Linked Data
ClinVar Variation Id:
45036
ClinVar RCV Id:
RCV000038175
dbSNP Id:
rs397517001
PubMed:
PMID:16549640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32841102C>T , CM000674.2:g.32841102C>T | GRCh38 |
| NC_000012.11:g.32994036C>T , CM000674.1:g.32994036C>T | GRCh37 |
| NC_000012.10:g.32885303C>T | NCBI36 |
| NG_009000.1:g.60745G>A , LRG_398:g.60745G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700559.2:c.1482G>A | ENSP00000515065.2:p.Trp494Ter | |
| ENST00000700563.2:c.1482G>A | ENSP00000515066.2:p.Trp494Ter | |
| ENST00000700559.1:c.697G>A | ||
| ENST00000700560.1:n.697G>A | ||
| ENST00000700561.1:n.823G>A | ||
| ENST00000700563.1:c.1436G>A | ||
| ENST00000700564.1:n.1486G>A | ||
| ENST00000700565.1:n.1335G>A | ||
| ENST00000070846.11:c.1614G>A | ENSP00000070846.6:p.Trp538Ter | |
| ENST00000340811.9:c.1482G>A MANE Select | ENSP00000342800.5:p.Trp494Ter | |
| ENST00000070846.10:c.1614G>A | ENSP00000070846.6:p.Trp538Ter | |
| ENST00000340811.8:c.1482G>A | ENSP00000342800.4:p.Trp494Ter | |
| ENST00000613243.1:c.1614G>A | ENSP00000478295.1:p.Trp538Ter | |
| NM_001005242.2:c.1482G>A | NP_001005242.2:p.Trp494Ter | |
| NM_004572.3:c.1614G>A , LRG_398t1:c.1614G>A | NP_004563.2:p.Trp538Ter | |
| NM_001005242.3:c.1482G>A MANE Select | NP_001005242.2:p.Trp494Ter | |
| NM_004572.4:c.1614G>A | NP_004563.2:p.Trp538Ter |