Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130387908G>A , CM000669.2:g.130387908G>A | GRCh38 |
| NC_000007.13:g.130027749G>A , CM000669.1:g.130027749G>A | GRCh37 |
| NC_000007.12:g.129814985G>A | NCBI36 |
| NG_042276.1:g.12538G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.1157G>A MANE Select | NP_001859.1:p.Arg386His |
| ENST00000011292.8:c.1157G>A MANE Select | ENSP00000011292.3:p.Arg386His |
| NM_001868.3:c.1157G>A | NP_001859.1:p.Arg386His |
| ENST00000011292.7:c.1157G>A | ENSP00000011292.3:p.Arg386His |
| ENST00000479106.1:n.1732G>A | |
| ENST00000484324.1:c.893G>A | ENSP00000419497.1:p.Arg298His |