Linked Data
ClinVar Variation Id:
2916637
ClinVar RCV Id:
RCV003741058
dbSNP Id:
rs749724052
ExAC:
19:11240363 A / G
gnomAD v2:
19-11240363-A-G
gnomAD v4:
19-11129687-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129687A>G , CM000681.2:g.11129687A>G | GRCh38 |
| NC_000019.9:g.11240363A>G , CM000681.1:g.11240363A>G | GRCh37 |
| NC_000019.8:g.11101363A>G | NCBI36 |
| NG_009060.1:g.45307A>G , LRG_274:g.45307A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2805+17A>G | ENSP00000252444.6:n.2805+17A>G | |
| ENST00000559340.2:c.*616+17A>G | ENSP00000453696.2:n.*616+17A>G | |
| ENST00000560467.2:c.2427+17A>G | ENSP00000453513.2:n.2427+17A>G | |
| ENST00000558518.6:c.2547+17A>G MANE Select | ENSP00000454071.1:n.2547+17A>G | |
| ENST00000252444.9:c.2801+17A>G | ||
| ENST00000455727.6:c.2043+17A>G | ENSP00000397829.2:n.2043+17A>G | |
| ENST00000535915.5:c.2424+17A>G | ENSP00000440520.1:n.2424+17A>G | |
| ENST00000545707.5:c.2013+17A>G | ENSP00000437639.1:n.2013+17A>G | |
| ENST00000557933.5:c.2609+17A>G | ENSP00000453557.1:n.2609+17A>G | |
| ENST00000558013.5:c.2547+17A>G | ENSP00000453346.1:n.2547+17A>G | |
| ENST00000558518.5:c.2547+17A>G | ENSP00000454071.1:n.2547+17A>G | |
| ENST00000560628.1:n.108+2033A>G | ||
| NM_000527.4:c.2547+17A>G , LRG_274t1:c.2547+17A>G | NP_000518.1:n.2547+17A>G | |
| NM_001195798.1:c.2547+17A>G | NP_001182727.1:n.2547+17A>G | |
| NM_001195799.1:c.2424+17A>G | NP_001182728.1:n.2424+17A>G | |
| NM_001195800.1:c.2043+17A>G | NP_001182729.1:n.2043+17A>G | |
| NM_001195803.1:c.2013+17A>G | NP_001182732.1:n.2013+17A>G | |
| XM_011528010.1:c.2469+17A>G | XP_011526312.1:n.2469+17A>G | |
| XM_011528011.1:c.2166+17A>G | XP_011526313.1:n.2166+17A>G | |
| XM_011528010.2:c.2469+17A>G | XP_011526312.1:n.2469+17A>G | |
| XR_001753685.2:n.2881+17A>G | ||
| XR_001753686.2:n.2524+17A>G | ||
| NM_000527.5:c.2547+17A>G MANE Select | NP_000518.1:n.2547+17A>G | |
| NM_001195798.2:c.2547+17A>G | NP_001182727.1:n.2547+17A>G | |
| NM_001195799.2:c.2424+17A>G | NP_001182728.1:n.2424+17A>G | |
| NM_001195800.2:c.2043+17A>G | NP_001182729.1:n.2043+17A>G | |
| NM_001195803.2:c.2013+17A>G | NP_001182732.1:n.2013+17A>G |