Linked Data
dbSNP Id:
rs756555314
ExAC:
19:11216319 G / A
gnomAD v2:
19-11216319-G-A
gnomAD v3:
19-11105643-G-A
gnomAD v4:
19-11105643-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105643G>A , CM000681.2:g.11105643G>A | GRCh38 |
| NC_000019.9:g.11216319G>A , CM000681.1:g.11216319G>A | GRCh37 |
| NC_000019.8:g.11077319G>A | NCBI36 |
| NG_009060.1:g.21263G>A , LRG_274:g.21263G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.952+43G>A | ENSP00000252444.6:n.952+43G>A | |
| ENST00000559340.2:c.694+43G>A | ENSP00000453696.2:n.694+43G>A | |
| ENST00000560467.2:c.694+43G>A | ENSP00000453513.2:n.694+43G>A | |
| ENST00000558518.6:c.694+43G>A MANE Select | ENSP00000454071.1:n.694+43G>A | |
| ENST00000252444.9:c.948+43G>A | ||
| ENST00000455727.6:c.314-1749G>A | ENSP00000397829.2:n.314-1749G>A | |
| ENST00000535915.5:c.571+43G>A | ENSP00000440520.1:n.571+43G>A | |
| ENST00000545707.5:c.314-922G>A | ENSP00000437639.1:n.314-922G>A | |
| ENST00000557933.5:c.694+43G>A | ENSP00000453557.1:n.694+43G>A | |
| ENST00000558013.5:c.694+43G>A | ENSP00000453346.1:n.694+43G>A | |
| ENST00000558518.5:c.694+43G>A | ENSP00000454071.1:n.694+43G>A | |
| ENST00000560467.1:c.294+43G>A | ||
| NM_000527.4:c.694+43G>A , LRG_274t1:c.694+43G>A | NP_000518.1:n.694+43G>A | |
| NM_001195798.1:c.694+43G>A | NP_001182727.1:n.694+43G>A | |
| NM_001195799.1:c.571+43G>A | NP_001182728.1:n.571+43G>A | |
| NM_001195800.1:c.314-1749G>A | NP_001182729.1:n.314-1749G>A | |
| NM_001195803.1:c.314-922G>A | NP_001182732.1:n.314-922G>A | |
| XM_011528010.1:c.694+43G>A | XP_011526312.1:n.694+43G>A | |
| XM_011528011.1:c.314-922G>A | XP_011526313.1:n.314-922G>A | |
| XR_244074.2:n.844+43G>A | ||
| XM_011528010.2:c.694+43G>A | XP_011526312.1:n.694+43G>A | |
| XR_001753685.2:n.811+43G>A | ||
| XR_001753686.2:n.811+43G>A | ||
| NM_000527.5:c.694+43G>A MANE Select | NP_000518.1:n.694+43G>A | |
| NM_001195798.2:c.694+43G>A | NP_001182727.1:n.694+43G>A | |
| NM_001195799.2:c.571+43G>A | NP_001182728.1:n.571+43G>A | |
| NM_001195800.2:c.314-1749G>A | NP_001182729.1:n.314-1749G>A | |
| NM_001195803.2:c.314-922G>A | NP_001182732.1:n.314-922G>A |