Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185144891G>A , CM000666.2:g.185144891G>A | GRCh38 |
| NC_000004.11:g.186066045G>A , CM000666.1:g.186066045G>A | GRCh37 |
| NC_000004.10:g.186303039G>A | NCBI36 |
| NG_013001.1:g.6629G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001151.4:c.239G>A MANE Select | NP_001142.2:p.Arg80His |
| ENST00000281456.11:c.239G>A MANE Select | ENSP00000281456.5:p.Arg80His |
| NM_001151.3:c.239G>A | NP_001142.2:p.Arg80His |
| ENST00000281456.10:c.239G>A | ENSP00000281456.5:p.Arg80His |
| ENST00000491736.1:c.239G>A | ENSP00000476711.1:p.Arg80His |