Linked Data
ClinVar Variation Id:
1056927
ClinVar RCV Id:
RCV001365827
dbSNP Id:
rs2144376668
gnomAD v4:
17-70175278-G-A
COSMIC:
COSM983655
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175278G>A , CM000679.2:g.70175278G>A | GRCh38 |
| NC_000017.10:g.68171419G>A , CM000679.1:g.68171419G>A | GRCh37 |
| NC_000017.9:g.65683014G>A | NCBI36 |
| NG_008798.1:g.10744G>A , LRG_328:g.10744G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.239G>A MANE Select | ENSP00000243457.2:p.Arg80His | |
| ENST00000243457.3:c.239G>A | ENSP00000243457.2:p.Arg80His | |
| ENST00000535240.1:c.239G>A | ENSP00000441848.1:p.Arg80His | |
| NM_000891.2:c.239G>A , LRG_328t1:c.239G>A | NP_000882.1:p.Arg80His | |
| XM_011524779.1:c.239G>A | XP_011523081.1:p.Arg80His | |
| NM_000891.3:c.239G>A MANE Select | NP_000882.1:p.Arg80His |