Linked Data
ClinVar Variation Id:
16924
ClinVar RCV Id:
RCV000018432
dbSNP Id:
rs121909601
PubMed:
PMID:19890111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33279897G>A , CM000683.2:g.33279897G>A | GRCh38 |
| NC_000021.8:g.34652202G>A , CM000683.1:g.34652202G>A | GRCh37 |
| NC_000021.7:g.33574072G>A | NCBI36 |
| NG_012089.1:g.18531G>A , LRG_152:g.18531G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433395.7:c.1137G>A | ENSP00000388223.3:p.Trp379Ter | |
| ENST00000609556.3:c.477G>A | ENSP00000489965.2:p.Trp159Ter | |
| ENST00000637650.2:c.477G>A | ENSP00000489716.2:p.Trp159Ter | |
| ENST00000696764.1:n.530G>A | ||
| ENST00000696765.1:n.207+3144G>A | ||
| ENST00000682009.1:c.*587G>A | ENSP00000506919.1:n.*587G>A | |
| ENST00000683116.1:c.*729G>A | ENSP00000508125.1:n.*729G>A | |
| ENST00000290200.7:c.477G>A MANE Select | ENSP00000290200.2:p.Trp159Ter | |
| ENST00000646150.1:c.*565G>A | ENSP00000496248.1:n.*565G>A | |
| ENST00000290200.6:c.477G>A | ENSP00000290200.2:p.Trp159Ter | |
| ENST00000422891.5:c.*103G>A | ENSP00000414682.1:n.*103G>A | |
| ENST00000432231.1:c.613G>A | ||
| ENST00000433395.6:c.860G>A | ||
| ENST00000451065.1:c.288G>A | ENSP00000397611.1:p.Trp96Ter | |
| ENST00000493295.5:n.894G>A | ||
| ENST00000498371.1:n.382G>A | ||
| NM_000628.4:c.477G>A | NP_000619.3:p.Trp159Ter | |
| NM_000628.5:c.477G>A MANE Select | NP_000619.3:p.Trp159Ter |