Linked Data
ClinVar Variation Id:
252105
dbSNP Id:
rs879255069
gnomAD v2:
19-11230808-T-G
gnomAD v3:
19-11120132-T-G
gnomAD v4:
19-11120132-T-G
PubMed:
PMID:23375686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120132T>G , CM000681.2:g.11120132T>G | GRCh38 |
| NC_000019.9:g.11230808T>G , CM000681.1:g.11230808T>G | GRCh37 |
| NC_000019.8:g.11091808T>G | NCBI36 |
| NG_009060.1:g.35752T>G , LRG_274:g.35752T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2144T>G | ENSP00000252444.6:p.Phe715Cys | |
| ENST00000559340.2:c.1746T>G | ENSP00000453696.2:p.Phe582Leu | |
| ENST00000560467.2:c.1766T>G | ENSP00000453513.2:p.Phe589Cys | |
| ENST00000558518.6:c.1886T>G MANE Select | ENSP00000454071.1:p.Phe629Cys | |
| ENST00000252444.9:c.2140T>G | ||
| ENST00000455727.6:c.1382T>G | ENSP00000397829.2:p.Phe461Cys | |
| ENST00000535915.5:c.1763T>G | ENSP00000440520.1:p.Phe588Cys | |
| ENST00000545707.5:c.1505T>G | ENSP00000437639.1:p.Phe502Cys | |
| ENST00000557933.5:c.1886T>G | ENSP00000453557.1:p.Phe629Cys | |
| ENST00000558013.5:c.1886T>G | ENSP00000453346.1:p.Phe629Cys | |
| ENST00000558518.5:c.1886T>G | ENSP00000454071.1:p.Phe629Cys | |
| ENST00000559340.1:c.467T>G | ||
| NM_000527.4:c.1886T>G , LRG_274t1:c.1886T>G | NP_000518.1:p.Phe629Cys | |
| NM_001195798.1:c.1886T>G | NP_001182727.1:p.Phe629Cys | |
| NM_001195799.1:c.1763T>G | NP_001182728.1:p.Phe588Cys | |
| NM_001195800.1:c.1382T>G | NP_001182729.1:p.Phe461Cys | |
| NM_001195803.1:c.1505T>G | NP_001182732.1:p.Phe502Cys | |
| XM_011528010.1:c.1886T>G | XP_011526312.1:p.Phe629Cys | |
| XM_011528011.1:c.1505T>G | XP_011526313.1:p.Phe502Cys | |
| XR_244074.2:n.1896T>G | ||
| XM_011528010.2:c.1886T>G | XP_011526312.1:p.Phe629Cys | |
| XR_001753685.2:n.2003T>G | ||
| XR_001753686.2:n.1863T>G | ||
| NM_000527.5:c.1886T>G MANE Select | NP_000518.1:p.Phe629Cys | |
| NM_001195798.2:c.1886T>G | NP_001182727.1:p.Phe629Cys | |
| NM_001195799.2:c.1763T>G | NP_001182728.1:p.Phe588Cys | |
| NM_001195800.2:c.1382T>G | NP_001182729.1:p.Phe461Cys | |
| NM_001195803.2:c.1505T>G | NP_001182732.1:p.Phe502Cys |