Linked Data
dbSNP Id:
rs767815246
ExAC:
21:45876541 G / A
gnomAD v2:
21-45876541-G-A
gnomAD v4:
21-44456658-G-A
COSMIC:
COSM4699025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456658G>A , CM000683.2:g.44456658G>A | GRCh38 |
| NC_000021.8:g.45876541G>A , CM000683.1:g.45876541G>A | GRCh37 |
| NC_000021.7:g.44700969G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.14G>A MANE Select | ENSP00000291592.4:p.Arg5His | |
| ENST00000291592.5:c.14G>A | ENSP00000291592.4:p.Arg5His | |
| NM_030891.4:c.14G>A | NP_112153.1:p.Arg5His | |
| NM_030891.5:c.14G>A | NP_112153.1:p.Arg5His | |
| NM_030891.6:c.14G>A MANE Select | NP_112153.1:p.Arg5His |