Linked Data
dbSNP Id:
rs779052034
ExAC:
4:42965021 A / G
gnomAD v2:
4-42965021-A-G
gnomAD v3:
4-42963004-A-G
gnomAD v4:
4-42963004-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42963004A>G , CM000666.2:g.42963004A>G | GRCh38 |
| NC_000004.11:g.42965021A>G , CM000666.1:g.42965021A>G | GRCh37 |
| NC_000004.10:g.42659778A>G | NCBI36 |
| NG_027718.1:g.74739A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.497A>G MANE Select | ENSP00000382670.2:p.His166Arg | |
| ENST00000399770.2:c.497A>G | ENSP00000382670.2:p.His166Arg | |
| NM_001080476.2:c.497A>G | NP_001073945.1:p.His166Arg | |
| XM_011513691.1:c.134A>G | XP_011511993.1:p.His45Arg | |
| NM_001080476.3:c.497A>G MANE Select | NP_001073945.1:p.His166Arg |