Linked Data
ClinVar Variation Id:
161281
dbSNP Id:
rs151207122
ExAC:
19:11218157 C / T
gnomAD v2:
19-11218157-C-T
gnomAD v3:
19-11107481-C-T
gnomAD v4:
19-11107481-C-T
ERepo:
CA023787/MONDO:0007750/013
PubMed:
PMID:9544746
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11107481C>T , CM000681.2:g.11107481C>T | GRCh38 |
| NC_000019.9:g.11218157C>T , CM000681.1:g.11218157C>T | GRCh37 |
| NC_000019.8:g.11079157C>T | NCBI36 |
| NG_009060.1:g.23101C>T , LRG_274:g.23101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1165C>T | ENSP00000252444.6:p.Arg389Trp | |
| ENST00000559340.2:c.907C>T | ENSP00000453696.2:p.Arg303Trp | |
| ENST00000560467.2:c.907C>T | ENSP00000453513.2:p.Arg303Trp | |
| ENST00000558518.6:c.907C>T MANE Select | ENSP00000454071.1:p.Arg303Trp | |
| ENST00000252444.9:c.1161C>T | ||
| ENST00000455727.6:c.403C>T | ENSP00000397829.2:p.Arg135Trp | |
| ENST00000535915.5:c.784C>T | ENSP00000440520.1:p.Arg262Trp | |
| ENST00000545707.5:c.526C>T | ENSP00000437639.1:p.Arg176Trp | |
| ENST00000557933.5:c.907C>T | ENSP00000453557.1:p.Arg303Trp | |
| ENST00000558013.5:c.907C>T | ENSP00000453346.1:p.Arg303Trp | |
| ENST00000558518.5:c.907C>T | ENSP00000454071.1:p.Arg303Trp | |
| ENST00000558528.1:n.422C>T | ||
| ENST00000560467.1:c.507C>T | ||
| NM_000527.4:c.907C>T , LRG_274t1:c.907C>T | NP_000518.1:p.Arg303Trp | |
| NM_001195798.1:c.907C>T | NP_001182727.1:p.Arg303Trp | |
| NM_001195799.1:c.784C>T | NP_001182728.1:p.Arg262Trp | |
| NM_001195800.1:c.403C>T | NP_001182729.1:p.Arg135Trp | |
| NM_001195803.1:c.526C>T | NP_001182732.1:p.Arg176Trp | |
| XM_011528010.1:c.907C>T | XP_011526312.1:p.Arg303Trp | |
| XM_011528011.1:c.526C>T | XP_011526313.1:p.Arg176Trp | |
| XR_244074.2:n.1057C>T | ||
| XM_011528010.2:c.907C>T | XP_011526312.1:p.Arg303Trp | |
| XR_001753685.2:n.1024C>T | ||
| XR_001753686.2:n.1024C>T | ||
| NM_000527.5:c.907C>T MANE Select | NP_000518.1:p.Arg303Trp | |
| NM_001195798.2:c.907C>T | NP_001182727.1:p.Arg303Trp | |
| NM_001195799.2:c.784C>T | NP_001182728.1:p.Arg262Trp | |
| NM_001195800.2:c.403C>T | NP_001182729.1:p.Arg135Trp | |
| NM_001195803.2:c.526C>T | NP_001182732.1:p.Arg176Trp |