Linked Data
ClinVar Variation Id:
237107
dbSNP Id:
rs552157433
ExAC:
15:48704815 C / T
gnomAD v2:
15-48704815-C-T
gnomAD v3:
15-48412618-C-T
gnomAD v4:
15-48412618-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412618C>T , CM000677.2:g.48412618C>T | GRCh38 |
| NC_000015.9:g.48704815C>T , CM000677.1:g.48704815C>T | GRCh37 |
| NC_000015.8:g.46492107C>T | NCBI36 |
| NG_008805.2:g.238171G>A , LRG_778:g.238171G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*985G>A | ENSP00000453958.2:n.*985G>A | |
| ENST00000674301.2:c.*1690G>A | ENSP00000501333.2:n.*1690G>A | |
| ENST00000682158.1:n.1558G>A | ||
| ENST00000682170.1:n.2358G>A | ||
| ENST00000682767.1:n.1474G>A | ||
| ENST00000316623.10:c.8177G>A MANE Select | ENSP00000325527.5:p.Arg2726Gln | |
| ENST00000674301.1:c.3343G>A | ENSP00000501333.1:n.3343G>A | |
| ENST00000316623.9:c.8177G>A | ENSP00000325527.5:p.Arg2726Gln | |
| ENST00000559133.5:c.3546G>A | ||
| ENST00000561429.1:n.432G>A | ||
| NM_000138.4:c.8177G>A , LRG_778t1:c.8177G>A | NP_000129.3:p.Arg2726Gln | |
| NM_000138.5:c.8177G>A MANE Select | NP_000129.3:p.Arg2726Gln |