Linked Data
ClinVar Variation Id:
252188
ClinVar RCV Id:
RCV000238523
dbSNP Id:
rs121908031
PubMed:
PMID:16092059
ERepo:
CA10585743/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120425C>G , CM000681.2:g.11120425C>G | GRCh38 |
| NC_000019.9:g.11231101C>G , CM000681.1:g.11231101C>G | GRCh37 |
| NC_000019.8:g.11092101C>G | NCBI36 |
| NG_009060.1:g.36045C>G , LRG_274:g.36045C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2301C>G | ENSP00000252444.6:p.Cys767Trp | |
| ENST00000559340.2:c.*112C>G | ENSP00000453696.2:n.*112C>G | |
| ENST00000560467.2:c.1923C>G | ENSP00000453513.2:p.Cys641Trp | |
| ENST00000558518.6:c.2043C>G MANE Select | ENSP00000454071.1:p.Cys681Trp | |
| ENST00000252444.9:c.2297C>G | ||
| ENST00000455727.6:c.1539C>G | ENSP00000397829.2:p.Cys513Trp | |
| ENST00000535915.5:c.1920C>G | ENSP00000440520.1:p.Cys640Trp | |
| ENST00000545707.5:c.1606+192C>G | ENSP00000437639.1:n.1606+192C>G | |
| ENST00000557933.5:c.2043C>G | ENSP00000453557.1:p.Cys681Trp | |
| ENST00000558013.5:c.2043C>G | ENSP00000453346.1:p.Cys681Trp | |
| ENST00000558518.5:c.2043C>G | ENSP00000454071.1:p.Cys681Trp | |
| NM_000527.4:c.2043C>G , LRG_274t1:c.2043C>G | NP_000518.1:p.Cys681Trp | |
| NM_001195798.1:c.2043C>G | NP_001182727.1:p.Cys681Trp | |
| NM_001195799.1:c.1920C>G | NP_001182728.1:p.Cys640Trp | |
| NM_001195800.1:c.1539C>G | NP_001182729.1:p.Cys513Trp | |
| NM_001195803.1:c.1606+192C>G | NP_001182732.1:n.1606+192C>G | |
| XM_011528010.1:c.2043C>G | XP_011526312.1:p.Cys681Trp | |
| XM_011528011.1:c.1662C>G | XP_011526313.1:p.Cys554Trp | |
| XR_244074.2:n.2053C>G | ||
| XM_011528010.2:c.2043C>G | XP_011526312.1:p.Cys681Trp | |
| XR_001753685.2:n.2160C>G | ||
| XR_001753686.2:n.2020C>G | ||
| NM_000527.5:c.2043C>G MANE Select | NP_000518.1:p.Cys681Trp | |
| NM_001195798.2:c.2043C>G | NP_001182727.1:p.Cys681Trp | |
| NM_001195799.2:c.1920C>G | NP_001182728.1:p.Cys640Trp | |
| NM_001195800.2:c.1539C>G | NP_001182729.1:p.Cys513Trp | |
| NM_001195803.2:c.1606+192C>G | NP_001182732.1:n.1606+192C>G |