Linked Data
ClinVar Variation Id:
3727
ClinVar RCV Id:
RCV002345225
dbSNP Id:
rs121908034
gnomAD v4:
19-11105470-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105470C>G , CM000681.2:g.11105470C>G | GRCh38 |
| NC_000019.9:g.11216146C>G , CM000681.1:g.11216146C>G | GRCh37 |
| NC_000019.8:g.11077146C>G | NCBI36 |
| NG_009060.1:g.21090C>G , LRG_274:g.21090C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.822C>G | ENSP00000252444.6:p.Tyr274Ter | |
| ENST00000559340.2:c.564C>G | ENSP00000453696.2:p.Tyr188Ter | |
| ENST00000560467.2:c.564C>G | ENSP00000453513.2:p.Tyr188Ter | |
| ENST00000558518.6:c.564C>G MANE Select | ENSP00000454071.1:p.Tyr188Ter | |
| ENST00000252444.9:c.818C>G | ||
| ENST00000455727.6:c.314-1922C>G | ENSP00000397829.2:n.314-1922C>G | |
| ENST00000535915.5:c.441C>G | ENSP00000440520.1:p.Tyr147Ter | |
| ENST00000545707.5:c.314-1095C>G | ENSP00000437639.1:n.314-1095C>G | |
| ENST00000557933.5:c.564C>G | ENSP00000453557.1:p.Tyr188Ter | |
| ENST00000558013.5:c.564C>G | ENSP00000453346.1:p.Tyr188Ter | |
| ENST00000558518.5:c.564C>G | ENSP00000454071.1:p.Tyr188Ter | |
| ENST00000560467.1:c.164C>G | ||
| NM_000527.4:c.564C>G , LRG_274t1:c.564C>G | NP_000518.1:p.Tyr188Ter | |
| NM_001195798.1:c.564C>G | NP_001182727.1:p.Tyr188Ter | |
| NM_001195799.1:c.441C>G | NP_001182728.1:p.Tyr147Ter | |
| NM_001195800.1:c.314-1922C>G | NP_001182729.1:n.314-1922C>G | |
| NM_001195803.1:c.314-1095C>G | NP_001182732.1:n.314-1095C>G | |
| XM_011528010.1:c.564C>G | XP_011526312.1:p.Tyr188Ter | |
| XM_011528011.1:c.314-1095C>G | XP_011526313.1:n.314-1095C>G | |
| XR_244074.2:n.714C>G | ||
| XM_011528010.2:c.564C>G | XP_011526312.1:p.Tyr188Ter | |
| XR_001753685.2:n.681C>G | ||
| XR_001753686.2:n.681C>G | ||
| NM_000527.5:c.564C>G MANE Select | NP_000518.1:p.Tyr188Ter | |
| NM_001195798.2:c.564C>G | NP_001182727.1:p.Tyr188Ter | |
| NM_001195799.2:c.441C>G | NP_001182728.1:p.Tyr147Ter | |
| NM_001195800.2:c.314-1922C>G | NP_001182729.1:n.314-1922C>G | |
| NM_001195803.2:c.314-1095C>G | NP_001182732.1:n.314-1095C>G |