Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755391C>T , CM000679.2:g.43755391C>T | GRCh38 |
| NC_000017.10:g.41832759C>T , CM000679.1:g.41832759C>T | GRCh37 |
| NC_000017.9:g.39188285C>T | NCBI36 |
| NG_008078.2:g.8398G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.593G>A MANE Select | ENSP00000301691.1:p.Arg198His | |
| ENST00000301691.2:c.593G>A | ENSP00000301691.1:p.Arg198His | |
| NM_025237.2:c.593G>A | NP_079513.1:p.Arg198His | |
| NM_025237.3:c.593G>A MANE Select | NP_079513.1:p.Arg198His |