Linked Data
ClinVar Variation Id:
30399
dbSNP Id:
rs387906876
gnomAD v4:
10-119676984-G-A
COSMIC:
COSM2055662
PubMed:
PMID:21353195
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119676984G>A , CM000672.2:g.119676984G>A | GRCh38 |
| NC_000010.10:g.121436496G>A , CM000672.1:g.121436496G>A | GRCh37 |
| NC_000010.9:g.121426486G>A | NCBI36 |
| NG_016125.1:g.30615G>A , LRG_742:g.30615G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.1430G>A MANE Select | ENSP00000358081.4:p.Arg477His | |
| ENST00000369085.7:c.1430G>A | ENSP00000358081.3:p.Arg477His | |
| NM_004281.3:c.1430G>A , LRG_742t1:c.1430G>A | NP_004272.2:p.Arg477His | |
| XM_005270287.1:c.1427G>A | XP_005270344.1:p.Arg476His | |
| XM_005270287.2:c.1427G>A | XP_005270344.1:p.Arg476His | |
| NM_004281.4:c.1430G>A MANE Select | NP_004272.2:p.Arg477His |