Linked Data
dbSNP Id:
rs368617355
ExAC:
10:89472931 G / A
gnomAD v2:
10-89472931-G-A
gnomAD v4:
10-87713174-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87713174G>A , CM000672.2:g.87713174G>A | GRCh38 |
| NC_000010.10:g.89472931G>A , CM000672.1:g.89472931G>A | GRCh37 |
| NC_000010.9:g.89462911G>A | NCBI36 |
| NG_012150.1:g.58456G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.245G>A MANE Select | ENSP00000406157.1:p.Arg82His | |
| ENST00000361175.8:c.245G>A | ENSP00000354436.4:p.Arg82His | |
| ENST00000456849.1:c.245G>A | ENSP00000406157.1:p.Arg82His | |
| ENST00000465996.5:n.267G>A | ||
| ENST00000482258.1:n.288G>A | ||
| NM_001015880.1:c.245G>A | NP_001015880.1:p.Arg82His | |
| NM_004670.3:c.245G>A | NP_004661.2:p.Arg82His | |
| NM_001015880.2:c.245G>A MANE Select | NP_001015880.1:p.Arg82His | |
| NM_004670.4:c.245G>A | NP_004661.2:p.Arg82His |