Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32891090G>A , CM000665.2:g.32891090G>A | GRCh38 |
| NC_000003.11:g.32932582G>A , CM000665.1:g.32932582G>A | GRCh37 |
| NC_000003.10:g.32907586G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039111.3:c.1886G>A MANE Select | NP_001034200.1:p.Arg629His |
| ENST00000383763.6:c.1886G>A MANE Select | ENSP00000373272.3:p.Arg629His |
| NM_001039111.1:c.1886G>A | NP_001034200.1:p.Arg629His |
| NM_001039111.2:c.1886G>A | NP_001034200.1:p.Arg629His |
| ENST00000383763.5:c.1886G>A | ENSP00000373272.3:p.Arg629His |