Linked Data
ClinVar Variation Id:
183126
dbSNP Id:
rs201102492
ExAC:
19:11227613 G / A
gnomAD v2:
19-11227613-G-A
gnomAD v3:
19-11116937-G-A
gnomAD v4:
19-11116937-G-A
ERepo:
CA023585/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116937G>A , CM000681.2:g.11116937G>A | GRCh38 |
| NC_000019.9:g.11227613G>A , CM000681.1:g.11227613G>A | GRCh37 |
| NC_000019.8:g.11088613G>A | NCBI36 |
| NG_009060.1:g.32557G>A , LRG_274:g.32557G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2042G>A | ENSP00000252444.6:p.Arg681Gln | |
| ENST00000559340.2:c.1705+725G>A | ENSP00000453696.2:n.1705+725G>A | |
| ENST00000560467.2:c.1664G>A | ENSP00000453513.2:p.Arg555Gln | |
| ENST00000558518.6:c.1784G>A MANE Select | ENSP00000454071.1:p.Arg595Gln | |
| ENST00000252444.9:c.2038G>A | ||
| ENST00000455727.6:c.1280G>A | ENSP00000397829.2:p.Arg427Gln | |
| ENST00000535915.5:c.1661G>A | ENSP00000440520.1:p.Arg554Gln | |
| ENST00000545707.5:c.1403G>A | ENSP00000437639.1:p.Arg468Gln | |
| ENST00000557933.5:c.1784G>A | ENSP00000453557.1:p.Arg595Gln | |
| ENST00000558013.5:c.1784G>A | ENSP00000453346.1:p.Arg595Gln | |
| ENST00000558518.5:c.1784G>A | ENSP00000454071.1:p.Arg595Gln | |
| ENST00000559340.1:c.426+725G>A | ||
| NM_000527.4:c.1784G>A , LRG_274t1:c.1784G>A | NP_000518.1:p.Arg595Gln | |
| NM_001195798.1:c.1784G>A | NP_001182727.1:p.Arg595Gln | |
| NM_001195799.1:c.1661G>A | NP_001182728.1:p.Arg554Gln | |
| NM_001195800.1:c.1280G>A | NP_001182729.1:p.Arg427Gln | |
| NM_001195803.1:c.1403G>A | NP_001182732.1:p.Arg468Gln | |
| XM_011528010.1:c.1784G>A | XP_011526312.1:p.Arg595Gln | |
| XM_011528011.1:c.1403G>A | XP_011526313.1:p.Arg468Gln | |
| XR_244074.2:n.1855+725G>A | ||
| XM_011528010.2:c.1784G>A | XP_011526312.1:p.Arg595Gln | |
| XR_001753685.2:n.1901G>A | ||
| XR_001753686.2:n.1822+725G>A | ||
| NM_000527.5:c.1784G>A MANE Select | NP_000518.1:p.Arg595Gln | |
| NM_001195798.2:c.1784G>A | NP_001182727.1:p.Arg595Gln | |
| NM_001195799.2:c.1661G>A | NP_001182728.1:p.Arg554Gln | |
| NM_001195800.2:c.1280G>A | NP_001182729.1:p.Arg427Gln | |
| NM_001195803.2:c.1403G>A | NP_001182732.1:p.Arg468Gln |