Linked Data
dbSNP Id:
rs142351714
ExAC:
4:42964964 G / A
gnomAD v2:
4-42964964-G-A
gnomAD v3:
4-42962947-G-A
gnomAD v4:
4-42962947-G-A
COSMIC:
COSM447877
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42962947G>A , CM000666.2:g.42962947G>A | GRCh38 |
| NC_000004.11:g.42964964G>A , CM000666.1:g.42964964G>A | GRCh37 |
| NC_000004.10:g.42659721G>A | NCBI36 |
| NG_027718.1:g.74682G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.440G>A MANE Select | ENSP00000382670.2:p.Arg147His | |
| ENST00000399770.2:c.440G>A | ENSP00000382670.2:p.Arg147His | |
| NM_001080476.2:c.440G>A | NP_001073945.1:p.Arg147His | |
| XM_011513691.1:c.77G>A | XP_011511993.1:p.Arg26His | |
| NM_001080476.3:c.440G>A MANE Select | NP_001073945.1:p.Arg147His |