Linked Data
dbSNP Id:
rs199527540
ExAC:
19:11224459 G / A
gnomAD v2:
19-11224459-G-A
gnomAD v3:
19-11113783-G-A
gnomAD v4:
19-11113783-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113783G>A , CM000681.2:g.11113783G>A | GRCh38 |
| NC_000019.9:g.11224459G>A , CM000681.1:g.11224459G>A | GRCh37 |
| NC_000019.8:g.11085459G>A | NCBI36 |
| NG_009060.1:g.29403G>A , LRG_274:g.29403G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1844+21G>A | ENSP00000252444.6:n.1844+21G>A | |
| ENST00000559340.2:c.1586+21G>A | ENSP00000453696.2:n.1586+21G>A | |
| ENST00000560467.2:c.1466+21G>A | ENSP00000453513.2:n.1466+21G>A | |
| ENST00000558518.6:c.1586+21G>A MANE Select | ENSP00000454071.1:n.1586+21G>A | |
| ENST00000252444.9:c.1840+21G>A | ||
| ENST00000455727.6:c.1082+21G>A | ENSP00000397829.2:n.1082+21G>A | |
| ENST00000535915.5:c.1463+21G>A | ENSP00000440520.1:n.1463+21G>A | |
| ENST00000545707.5:c.1205+21G>A | ENSP00000437639.1:n.1205+21G>A | |
| ENST00000557933.5:c.1586+21G>A | ENSP00000453557.1:n.1586+21G>A | |
| ENST00000558013.5:c.1586+21G>A | ENSP00000453346.1:n.1586+21G>A | |
| ENST00000558518.5:c.1586+21G>A | ENSP00000454071.1:n.1586+21G>A | |
| ENST00000559340.1:c.307+21G>A | ||
| NM_000527.4:c.1586+21G>A , LRG_274t1:c.1586+21G>A | NP_000518.1:n.1586+21G>A | |
| NM_001195798.1:c.1586+21G>A | NP_001182727.1:n.1586+21G>A | |
| NM_001195799.1:c.1463+21G>A | NP_001182728.1:n.1463+21G>A | |
| NM_001195800.1:c.1082+21G>A | NP_001182729.1:n.1082+21G>A | |
| NM_001195803.1:c.1205+21G>A | NP_001182732.1:n.1205+21G>A | |
| XM_011528010.1:c.1586+21G>A | XP_011526312.1:n.1586+21G>A | |
| XM_011528011.1:c.1205+21G>A | XP_011526313.1:n.1205+21G>A | |
| XR_244074.2:n.1736+21G>A | ||
| XM_011528010.2:c.1586+21G>A | XP_011526312.1:n.1586+21G>A | |
| XR_001753685.2:n.1703+21G>A | ||
| XR_001753686.2:n.1703+21G>A | ||
| NM_000527.5:c.1586+21G>A MANE Select | NP_000518.1:n.1586+21G>A | |
| NM_001195798.2:c.1586+21G>A | NP_001182727.1:n.1586+21G>A | |
| NM_001195799.2:c.1463+21G>A | NP_001182728.1:n.1463+21G>A | |
| NM_001195800.2:c.1082+21G>A | NP_001182729.1:n.1082+21G>A | |
| NM_001195803.2:c.1205+21G>A | NP_001182732.1:n.1205+21G>A |