Linked Data
ClinVar Variation Id:
252090
ClinVar RCV Id:
RCV000237698
dbSNP Id:
rs875989933
PubMed:
PMID:11313767
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120106G>C , CM000681.2:g.11120106G>C | GRCh38 |
| NC_000019.9:g.11230782G>C , CM000681.1:g.11230782G>C | GRCh37 |
| NC_000019.8:g.11091782G>C | NCBI36 |
| NG_009060.1:g.35726G>C , LRG_274:g.35726G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2118G>C | ENSP00000252444.6:p.Trp706Cys | |
| ENST00000559340.2:c.1720G>C | ENSP00000453696.2:p.Asp574His | |
| ENST00000560467.2:c.1740G>C | ENSP00000453513.2:p.Trp580Cys | |
| ENST00000558518.6:c.1860G>C MANE Select | ENSP00000454071.1:p.Trp620Cys | |
| ENST00000252444.9:c.2114G>C | ||
| ENST00000455727.6:c.1356G>C | ENSP00000397829.2:p.Trp452Cys | |
| ENST00000535915.5:c.1737G>C | ENSP00000440520.1:p.Trp579Cys | |
| ENST00000545707.5:c.1479G>C | ENSP00000437639.1:p.Trp493Cys | |
| ENST00000557933.5:c.1860G>C | ENSP00000453557.1:p.Trp620Cys | |
| ENST00000558013.5:c.1860G>C | ENSP00000453346.1:p.Trp620Cys | |
| ENST00000558518.5:c.1860G>C | ENSP00000454071.1:p.Trp620Cys | |
| ENST00000559340.1:c.441G>C | ||
| NM_000527.4:c.1860G>C , LRG_274t1:c.1860G>C | NP_000518.1:p.Trp620Cys | |
| NM_001195798.1:c.1860G>C | NP_001182727.1:p.Trp620Cys | |
| NM_001195799.1:c.1737G>C | NP_001182728.1:p.Trp579Cys | |
| NM_001195800.1:c.1356G>C | NP_001182729.1:p.Trp452Cys | |
| NM_001195803.1:c.1479G>C | NP_001182732.1:p.Trp493Cys | |
| XM_011528010.1:c.1860G>C | XP_011526312.1:p.Trp620Cys | |
| XM_011528011.1:c.1479G>C | XP_011526313.1:p.Trp493Cys | |
| XR_244074.2:n.1870G>C | ||
| XM_011528010.2:c.1860G>C | XP_011526312.1:p.Trp620Cys | |
| XR_001753685.2:n.1977G>C | ||
| XR_001753686.2:n.1837G>C | ||
| NM_000527.5:c.1860G>C MANE Select | NP_000518.1:p.Trp620Cys | |
| NM_001195798.2:c.1860G>C | NP_001182727.1:p.Trp620Cys | |
| NM_001195799.2:c.1737G>C | NP_001182728.1:p.Trp579Cys | |
| NM_001195800.2:c.1356G>C | NP_001182729.1:p.Trp452Cys | |
| NM_001195803.2:c.1479G>C | NP_001182732.1:p.Trp493Cys |