Linked Data
ClinVar Variation Id:
37130
dbSNP Id:
rs387907288
gnomAD v4:
12-57569275-G-A
COSMIC:
COSM4043896
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57569275G>A , CM000674.2:g.57569275G>A | GRCh38 |
| NC_000012.11:g.57963058G>A , CM000674.1:g.57963058G>A | GRCh37 |
| NC_000012.10:g.56249325G>A | NCBI36 |
| NG_008155.1:g.24212G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000455537.7:c.839G>A MANE Select | ENSP00000408979.2:p.Arg280His | |
| ENST00000674619.1:c.839G>A | ENSP00000502270.1:p.Arg280His | |
| ENST00000676457.1:c.734G>A | ENSP00000501588.1:p.Arg245His | |
| ENST00000286452.5:c.572G>A | ENSP00000286452.5:p.Arg191His | |
| ENST00000455537.6:c.839G>A | ENSP00000408979.2:p.Arg280His | |
| NM_004984.2:c.839G>A | NP_004975.2:p.Arg280His | |
| NM_001354705.1:c.572G>A | NP_001341634.1:p.Arg191His | |
| NM_004984.3:c.839G>A | NP_004975.2:p.Arg280His | |
| XR_002957324.1:n.1072G>A | ||
| NM_004984.4:c.839G>A MANE Select | NP_004975.2:p.Arg280His | |
| NM_001354705.2:c.572G>A | NP_001341634.1:p.Arg191His |