Linked Data
ClinVar Variation Id:
1665778
ClinVar RCV Id:
RCV002203278
dbSNP Id:
rs2077585097
MyVariant Identifiers:
chr19:g.11233920G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123244G>A , CM000681.2:g.11123244G>A | GRCh38 |
| NC_000019.9:g.11233920G>A , CM000681.1:g.11233920G>A | GRCh37 |
| NC_000019.8:g.11094920G>A | NCBI36 |
| NG_009060.1:g.38864G>A , LRG_274:g.38864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2469G>A | ENSP00000252444.6:p.Arg823= | |
| ENST00000559340.2:c.*280G>A | ENSP00000453696.2:n.*280G>A | |
| ENST00000560467.2:c.2091G>A | ENSP00000453513.2:p.Arg697= | |
| ENST00000558518.6:c.2211G>A MANE Select | ENSP00000454071.1:p.Arg737= | |
| ENST00000252444.9:c.2465G>A | ||
| ENST00000455727.6:c.1707G>A | ENSP00000397829.2:p.Arg569= | |
| ENST00000535915.5:c.2088G>A | ENSP00000440520.1:p.Arg696= | |
| ENST00000545707.5:c.1677G>A | ENSP00000437639.1:p.Arg559= | |
| ENST00000557933.5:c.2211G>A | ENSP00000453557.1:p.Arg737= | |
| ENST00000558013.5:c.2211G>A | ENSP00000453346.1:p.Arg737= | |
| ENST00000558518.5:c.2211G>A | ENSP00000454071.1:p.Arg737= | |
| NM_000527.4:c.2211G>A , LRG_274t1:c.2211G>A | NP_000518.1:p.Arg737= | |
| NM_001195798.1:c.2211G>A | NP_001182727.1:p.Arg737= | |
| NM_001195799.1:c.2088G>A | NP_001182728.1:p.Arg696= | |
| NM_001195800.1:c.1707G>A | NP_001182729.1:p.Arg569= | |
| NM_001195803.1:c.1677G>A | NP_001182732.1:p.Arg559= | |
| XM_011528010.1:c.2211G>A | XP_011526312.1:p.Arg737= | |
| XM_011528011.1:c.1830G>A | XP_011526313.1:p.Arg610= | |
| XR_244074.2:n.2221G>A | ||
| XM_011528010.2:c.2211G>A | XP_011526312.1:p.Arg737= | |
| XR_001753685.2:n.2545G>A | ||
| XR_001753686.2:n.2188G>A | ||
| NM_000527.5:c.2211G>A MANE Select | NP_000518.1:p.Arg737= | |
| NM_001195798.2:c.2211G>A | NP_001182727.1:p.Arg737= | |
| NM_001195799.2:c.2088G>A | NP_001182728.1:p.Arg696= | |
| NM_001195800.2:c.1707G>A | NP_001182729.1:p.Arg569= | |
| NM_001195803.2:c.1677G>A | NP_001182732.1:p.Arg559= |