Linked Data
ClinVar Variation Id:
630380
ClinVar RCV Id:
RCV000775620
dbSNP Id:
rs752936229
ExAC:
19:11240298 G / T
gnomAD v2:
19-11240298-G-T
gnomAD v4:
19-11129622-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129622G>T , CM000681.2:g.11129622G>T | GRCh38 |
| NC_000019.9:g.11240298G>T , CM000681.1:g.11240298G>T | GRCh37 |
| NC_000019.8:g.11101298G>T | NCBI36 |
| NG_009060.1:g.45242G>T , LRG_274:g.45242G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2757G>T | ENSP00000252444.6:p.Glu919Asp | |
| ENST00000559340.2:c.*568G>T | ENSP00000453696.2:n.*568G>T | |
| ENST00000560467.2:c.2379G>T | ENSP00000453513.2:p.Glu793Asp | |
| ENST00000558518.6:c.2499G>T MANE Select | ENSP00000454071.1:p.Glu833Asp | |
| ENST00000252444.9:c.2753G>T | ||
| ENST00000455727.6:c.1995G>T | ENSP00000397829.2:p.Glu665Asp | |
| ENST00000535915.5:c.2376G>T | ENSP00000440520.1:p.Glu792Asp | |
| ENST00000545707.5:c.1965G>T | ENSP00000437639.1:p.Glu655Asp | |
| ENST00000557933.5:c.2561G>T | ENSP00000453557.1:p.Arg854Met | |
| ENST00000558013.5:c.2499G>T | ENSP00000453346.1:p.Glu833Asp | |
| ENST00000558518.5:c.2499G>T | ENSP00000454071.1:p.Glu833Asp | |
| ENST00000560628.1:n.108+1968G>T | ||
| NM_000527.4:c.2499G>T , LRG_274t1:c.2499G>T | NP_000518.1:p.Glu833Asp | |
| NM_001195798.1:c.2499G>T | NP_001182727.1:p.Glu833Asp | |
| NM_001195799.1:c.2376G>T | NP_001182728.1:p.Glu792Asp | |
| NM_001195800.1:c.1995G>T | NP_001182729.1:p.Glu665Asp | |
| NM_001195803.1:c.1965G>T | NP_001182732.1:p.Glu655Asp | |
| XM_011528010.1:c.2421G>T | XP_011526312.1:p.Glu807Asp | |
| XM_011528011.1:c.2118G>T | XP_011526313.1:p.Glu706Asp | |
| XM_011528010.2:c.2421G>T | XP_011526312.1:p.Glu807Asp | |
| XR_001753685.2:n.2833G>T | ||
| XR_001753686.2:n.2476G>T | ||
| NM_000527.5:c.2499G>T MANE Select | NP_000518.1:p.Glu833Asp | |
| NM_001195798.2:c.2499G>T | NP_001182727.1:p.Glu833Asp | |
| NM_001195799.2:c.2376G>T | NP_001182728.1:p.Glu792Asp | |
| NM_001195800.2:c.1995G>T | NP_001182729.1:p.Glu665Asp | |
| NM_001195803.2:c.1965G>T | NP_001182732.1:p.Glu655Asp |