Linked Data
ClinVar Variation Id:
251605
ClinVar RCV Id:
RCV000237974
dbSNP Id:
rs730882096
ERepo:
CA10585257/MONDO:0007750/013
PubMed:
PMID:20144596
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11110738G>T , CM000681.2:g.11110738G>T | GRCh38 |
| NC_000019.9:g.11221414G>T , CM000681.1:g.11221414G>T | GRCh37 |
| NC_000019.8:g.11082414G>T | NCBI36 |
| NG_009060.1:g.26358G>T , LRG_274:g.26358G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1285G>T | ENSP00000252444.6:p.Gly429Cys | |
| ENST00000559340.2:c.1027G>T | ENSP00000453696.2:p.Gly343Cys | |
| ENST00000560467.2:c.941-776G>T | ENSP00000453513.2:n.941-776G>T | |
| ENST00000558518.6:c.1027G>T MANE Select | ENSP00000454071.1:p.Gly343Cys | |
| ENST00000252444.9:c.1281G>T | ||
| ENST00000455727.6:c.523G>T | ENSP00000397829.2:p.Gly175Cys | |
| ENST00000535915.5:c.904G>T | ENSP00000440520.1:p.Gly302Cys | |
| ENST00000545707.5:c.646G>T | ENSP00000437639.1:p.Gly216Cys | |
| ENST00000557933.5:c.1027G>T | ENSP00000453557.1:p.Gly343Cys | |
| ENST00000558013.5:c.1027G>T | ENSP00000453346.1:p.Gly343Cys | |
| ENST00000558518.5:c.1027G>T | ENSP00000454071.1:p.Gly343Cys | |
| ENST00000560173.1:n.26G>T | ||
| ENST00000560467.1:c.541-776G>T | ||
| NM_000527.4:c.1027G>T , LRG_274t1:c.1027G>T | NP_000518.1:p.Gly343Cys | |
| NM_001195798.1:c.1027G>T | NP_001182727.1:p.Gly343Cys | |
| NM_001195799.1:c.904G>T | NP_001182728.1:p.Gly302Cys | |
| NM_001195800.1:c.523G>T | NP_001182729.1:p.Gly175Cys | |
| NM_001195803.1:c.646G>T | NP_001182732.1:p.Gly216Cys | |
| XM_011528010.1:c.1027G>T | XP_011526312.1:p.Gly343Cys | |
| XM_011528011.1:c.646G>T | XP_011526313.1:p.Gly216Cys | |
| XR_244074.2:n.1177G>T | ||
| XM_011528010.2:c.1027G>T | XP_011526312.1:p.Gly343Cys | |
| XR_001753685.2:n.1144G>T | ||
| XR_001753686.2:n.1144G>T | ||
| NM_000527.5:c.1027G>T MANE Select | NP_000518.1:p.Gly343Cys | |
| NM_001195798.2:c.1027G>T | NP_001182727.1:p.Gly343Cys | |
| NM_001195799.2:c.904G>T | NP_001182728.1:p.Gly302Cys | |
| NM_001195800.2:c.523G>T | NP_001182729.1:p.Gly175Cys | |
| NM_001195803.2:c.646G>T | NP_001182732.1:p.Gly216Cys |