Linked Data
ClinVar Variation Id:
252328
ClinVar RCV Id:
RCV000237359
dbSNP Id:
rs879255204
gnomAD v4:
19-11129536-G-A
COSMIC:
COSM1680664
PubMed:
PMID:24918045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129536G>A , CM000681.2:g.11129536G>A | GRCh38 |
| NC_000019.9:g.11240212G>A , CM000681.1:g.11240212G>A | GRCh37 |
| NC_000019.8:g.11101212G>A | NCBI36 |
| NG_009060.1:g.45156G>A , LRG_274:g.45156G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2671G>A | ENSP00000252444.6:p.Gly891Arg | |
| ENST00000559340.2:c.*482G>A | ENSP00000453696.2:n.*482G>A | |
| ENST00000560467.2:c.2293G>A | ENSP00000453513.2:p.Gly765Arg | |
| ENST00000558518.6:c.2413G>A MANE Select | ENSP00000454071.1:p.Gly805Arg | |
| ENST00000252444.9:c.2667G>A | ||
| ENST00000455727.6:c.1909G>A | ENSP00000397829.2:p.Gly637Arg | |
| ENST00000535915.5:c.2290G>A | ENSP00000440520.1:p.Gly764Arg | |
| ENST00000545707.5:c.1879G>A | ENSP00000437639.1:p.Gly627Arg | |
| ENST00000557933.5:c.2475G>A | ENSP00000453557.1:p.Trp825Ter | |
| ENST00000558013.5:c.2413G>A | ENSP00000453346.1:p.Gly805Arg | |
| ENST00000558518.5:c.2413G>A | ENSP00000454071.1:p.Gly805Arg | |
| ENST00000560628.1:n.108+1882G>A | ||
| NM_000527.4:c.2413G>A , LRG_274t1:c.2413G>A | NP_000518.1:p.Gly805Arg | |
| NM_001195798.1:c.2413G>A | NP_001182727.1:p.Gly805Arg | |
| NM_001195799.1:c.2290G>A | NP_001182728.1:p.Gly764Arg | |
| NM_001195800.1:c.1909G>A | NP_001182729.1:p.Gly637Arg | |
| NM_001195803.1:c.1879G>A | NP_001182732.1:p.Gly627Arg | |
| XM_011528010.1:c.2335G>A | XP_011526312.1:p.Gly779Arg | |
| XM_011528011.1:c.2032G>A | XP_011526313.1:p.Gly678Arg | |
| XR_244074.2:n.2423G>A | ||
| XM_011528010.2:c.2335G>A | XP_011526312.1:p.Gly779Arg | |
| XR_001753685.2:n.2747G>A | ||
| XR_001753686.2:n.2390G>A | ||
| NM_000527.5:c.2413G>A MANE Select | NP_000518.1:p.Gly805Arg | |
| NM_001195798.2:c.2413G>A | NP_001182727.1:p.Gly805Arg | |
| NM_001195799.2:c.2290G>A | NP_001182728.1:p.Gly764Arg | |
| NM_001195800.2:c.1909G>A | NP_001182729.1:p.Gly637Arg | |
| NM_001195803.2:c.1879G>A | NP_001182732.1:p.Gly627Arg |