Linked Data
ClinVar Variation Id:
251699
dbSNP Id:
rs750649426
ExAC:
19:11222305 C / A
gnomAD v2:
19-11222305-C-A
gnomAD v4:
19-11111629-C-A
ERepo:
CA032391/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111629C>A , CM000681.2:g.11111629C>A | GRCh38 |
| NC_000019.9:g.11222305C>A , CM000681.1:g.11222305C>A | GRCh37 |
| NC_000019.8:g.11083305C>A | NCBI36 |
| NG_009060.1:g.27249C>A , LRG_274:g.27249C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1434C>A | ENSP00000252444.6:p.Cys478Ter | |
| ENST00000559340.2:c.1176C>A | ENSP00000453696.2:p.Cys392Ter | |
| ENST00000560467.2:c.1056C>A | ENSP00000453513.2:p.Cys352Ter | |
| ENST00000558518.6:c.1176C>A MANE Select | ENSP00000454071.1:p.Cys392Ter | |
| ENST00000252444.9:c.1430C>A | ||
| ENST00000455727.6:c.672C>A | ENSP00000397829.2:p.Cys224Ter | |
| ENST00000535915.5:c.1053C>A | ENSP00000440520.1:p.Cys351Ter | |
| ENST00000545707.5:c.795C>A | ENSP00000437639.1:p.Cys265Ter | |
| ENST00000557933.5:c.1176C>A | ENSP00000453557.1:p.Cys392Ter | |
| ENST00000558013.5:c.1176C>A | ENSP00000453346.1:p.Cys392Ter | |
| ENST00000558518.5:c.1176C>A | ENSP00000454071.1:p.Cys392Ter | |
| ENST00000560173.1:n.175C>A | ||
| ENST00000560467.1:c.656C>A | ||
| NM_000527.4:c.1176C>A , LRG_274t1:c.1176C>A | NP_000518.1:p.Cys392Ter | |
| NM_001195798.1:c.1176C>A | NP_001182727.1:p.Cys392Ter | |
| NM_001195799.1:c.1053C>A | NP_001182728.1:p.Cys351Ter | |
| NM_001195800.1:c.672C>A | NP_001182729.1:p.Cys224Ter | |
| NM_001195803.1:c.795C>A | NP_001182732.1:p.Cys265Ter | |
| XM_011528010.1:c.1176C>A | XP_011526312.1:p.Cys392Ter | |
| XM_011528011.1:c.795C>A | XP_011526313.1:p.Cys265Ter | |
| XR_244074.2:n.1326C>A | ||
| XM_011528010.2:c.1176C>A | XP_011526312.1:p.Cys392Ter | |
| XR_001753685.2:n.1293C>A | ||
| XR_001753686.2:n.1293C>A | ||
| NM_000527.5:c.1176C>A MANE Select | NP_000518.1:p.Cys392Ter | |
| NM_001195798.2:c.1176C>A | NP_001182727.1:p.Cys392Ter | |
| NM_001195799.2:c.1053C>A | NP_001182728.1:p.Cys351Ter | |
| NM_001195800.2:c.672C>A | NP_001182729.1:p.Cys224Ter | |
| NM_001195803.2:c.795C>A | NP_001182732.1:p.Cys265Ter |