Linked Data
ClinVar Variation Id:
375806
ClinVar RCV Id:
RCV000417282
dbSNP Id:
rs373869746
ERepo:
CA16602321/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11110678G>T , CM000681.2:g.11110678G>T | GRCh38 |
| NC_000019.9:g.11221354G>T , CM000681.1:g.11221354G>T | GRCh37 |
| NC_000019.8:g.11082354G>T | NCBI36 |
| NG_009060.1:g.26298G>T , LRG_274:g.26298G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1225G>T | ENSP00000252444.6:p.Gly409Cys | |
| ENST00000559340.2:c.967G>T | ENSP00000453696.2:p.Gly323Cys | |
| ENST00000560467.2:c.941-836G>T | ENSP00000453513.2:n.941-836G>T | |
| ENST00000558518.6:c.967G>T MANE Select | ENSP00000454071.1:p.Gly323Cys | |
| ENST00000252444.9:c.1221G>T | ||
| ENST00000455727.6:c.463G>T | ENSP00000397829.2:p.Gly155Cys | |
| ENST00000535915.5:c.844G>T | ENSP00000440520.1:p.Gly282Cys | |
| ENST00000545707.5:c.586G>T | ENSP00000437639.1:p.Gly196Cys | |
| ENST00000557933.5:c.967G>T | ENSP00000453557.1:p.Gly323Cys | |
| ENST00000558013.5:c.967G>T | ENSP00000453346.1:p.Gly323Cys | |
| ENST00000558518.5:c.967G>T | ENSP00000454071.1:p.Gly323Cys | |
| ENST00000560467.1:c.541-836G>T | ||
| NM_000527.4:c.967G>T , LRG_274t1:c.967G>T | NP_000518.1:p.Gly323Cys | |
| NM_001195798.1:c.967G>T | NP_001182727.1:p.Gly323Cys | |
| NM_001195799.1:c.844G>T | NP_001182728.1:p.Gly282Cys | |
| NM_001195800.1:c.463G>T | NP_001182729.1:p.Gly155Cys | |
| NM_001195803.1:c.586G>T | NP_001182732.1:p.Gly196Cys | |
| XM_011528010.1:c.967G>T | XP_011526312.1:p.Gly323Cys | |
| XM_011528011.1:c.586G>T | XP_011526313.1:p.Gly196Cys | |
| XR_244074.2:n.1117G>T | ||
| XM_011528010.2:c.967G>T | XP_011526312.1:p.Gly323Cys | |
| XR_001753685.2:n.1084G>T | ||
| XR_001753686.2:n.1084G>T | ||
| NM_000527.5:c.967G>T MANE Select | NP_000518.1:p.Gly323Cys | |
| NM_001195798.2:c.967G>T | NP_001182727.1:p.Gly323Cys | |
| NM_001195799.2:c.844G>T | NP_001182728.1:p.Gly282Cys | |
| NM_001195800.2:c.463G>T | NP_001182729.1:p.Gly155Cys | |
| NM_001195803.2:c.586G>T | NP_001182732.1:p.Gly196Cys |