Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7695721C>T , CM000674.2:g.7695721C>T | GRCh38 |
| NC_000012.11:g.7848317C>T , CM000674.1:g.7848317C>T | GRCh37 |
| NC_000012.10:g.7739584C>T | NCBI36 |
| NG_028167.1:g.5044G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329913.4:c.8G>A MANE Select | ENSP00000331745.3:p.Arg3His | |
| ENST00000329913.3:c.8G>A | ENSP00000331745.3:p.Arg3His | |
| NM_020634.1:c.8G>A | NP_065685.1:p.Arg3His | |
| NM_020634.2:c.8G>A | NP_065685.1:p.Arg3His | |
| NM_020634.3:c.8G>A MANE Select | NP_065685.1:p.Arg3His |