Linked Data
ClinVar Variation Id:
264033
dbSNP Id:
rs200231626
ExAC:
15:48704803 C / T
gnomAD v2:
15-48704803-C-T
gnomAD v3:
15-48412606-C-T
gnomAD v4:
15-48412606-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412606C>T , CM000677.2:g.48412606C>T | GRCh38 |
| NC_000015.9:g.48704803C>T , CM000677.1:g.48704803C>T | GRCh37 |
| NC_000015.8:g.46492095C>T | NCBI36 |
| NG_008805.2:g.238183G>A , LRG_778:g.238183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*997G>A | ENSP00000453958.2:n.*997G>A | |
| ENST00000674301.2:c.*1702G>A | ENSP00000501333.2:n.*1702G>A | |
| ENST00000682158.1:n.1570G>A | ||
| ENST00000682170.1:n.2370G>A | ||
| ENST00000682767.1:n.1486G>A | ||
| ENST00000316623.10:c.8189G>A MANE Select | ENSP00000325527.5:p.Arg2730Gln | |
| ENST00000674301.1:c.3355G>A | ENSP00000501333.1:n.3355G>A | |
| ENST00000316623.9:c.8189G>A | ENSP00000325527.5:p.Arg2730Gln | |
| ENST00000559133.5:c.3558G>A | ||
| ENST00000561429.1:n.444G>A | ||
| NM_000138.4:c.8189G>A , LRG_778t1:c.8189G>A | NP_000129.3:p.Arg2730Gln | |
| NM_000138.5:c.8189G>A MANE Select | NP_000129.3:p.Arg2730Gln |