Linked Data
ClinVar Variation Id:
3974
ClinVar RCV Id:
RCV000004180
dbSNP Id:
rs193919339
PubMed:
PMID:11941370
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572866G>A , CM000664.2:g.73572866G>A | GRCh38 |
| NC_000002.11:g.73799993G>A , CM000664.1:g.73799993G>A | GRCh37 |
| NC_000002.10:g.73653501G>A | NCBI36 |
| NG_011690.1:g.192114G>A , LRG_741:g.192114G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10608G>A | ENSP00000507671.1:p.Trp3536Ter | |
| ENST00000682801.1:c.10608G>A | ENSP00000507862.1:p.Trp3536Ter | |
| ENST00000682859.1:c.10608G>A | ENSP00000508222.1:p.Trp3536Ter | |
| ENST00000683791.1:c.3694G>A | ||
| ENST00000684460.1:c.7889G>A | ||
| ENST00000684548.1:c.10608G>A | ENSP00000507421.1:p.Trp3536Ter | |
| ENST00000684590.1:c.5055G>A | ENSP00000507376.1:p.Trp1685Ter | |
| ENST00000684656.1:c.7934G>A | ||
| ENST00000613296.6:c.10989G>A MANE Select | ENSP00000482968.1:p.Trp3663Ter | |
| ENST00000651057.1:c.1143G>A | ENSP00000498504.1:p.Trp381Ter | |
| ENST00000651434.1:c.2345G>A | ||
| ENST00000651750.1:c.377G>A | ||
| ENST00000652487.1:c.2086G>A | ||
| ENST00000423048.5:c.4480G>A | ENSP00000399833.1:n.4480G>A | |
| ENST00000484298.5:c.10863G>A | ENSP00000478155.1:p.Trp3621Ter | |
| ENST00000613296.4:c.10989G>A | ENSP00000482968.1:p.Trp3663Ter | |
| ENST00000614410.4:c.10989G>A | ENSP00000479094.1:p.Trp3663Ter | |
| ENST00000620466.4:n.4792G>A | ||
| NM_015120.4:c.10992G>A , LRG_741t1:c.10992G>A | NP_055935.4:p.Trp3664Ter | |
| NM_001378454.1:c.10989G>A MANE Select | NP_001365383.1:p.Trp3663Ter |