Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88805634G>A , CM000678.2:g.88805634G>A | GRCh38 |
| NC_000016.9:g.88872042G>A , CM000678.1:g.88872042G>A | GRCh37 |
| NC_000016.8:g.87399543G>A | NCBI36 |
| NG_028266.1:g.6857G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301019.9:c.683G>A MANE Select | ENSP00000301019.4:p.Arg228His | |
| ENST00000301019.8:c.683G>A | ENSP00000301019.4:p.Arg228His | |
| ENST00000562747.1:n.389G>A | ||
| NM_030928.3:c.683G>A | NP_112190.2:p.Arg228His | |
| NM_030928.4:c.683G>A MANE Select | NP_112190.2:p.Arg228His |