Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106504119G>A , CM000674.2:g.106504119G>A | GRCh38 |
| NC_000012.11:g.106897897G>A , CM000674.1:g.106897897G>A | GRCh37 |
| NC_000012.10:g.105422027G>A | NCBI36 |
| NG_031837.1:g.151462G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018082.6:c.3137G>A MANE Select | NP_060552.4:p.Arg1046His |
| ENST00000228347.9:c.3137G>A MANE Select | ENSP00000228347.4:p.Arg1046His |
| NM_001160708.1:c.2963G>A | NP_001154180.1:p.Arg988His |
| NM_001160708.2:c.2963G>A | NP_001154180.1:p.Arg988His |
| NM_018082.5:c.3137G>A | NP_060552.4:p.Arg1046His |
| NR_040246.1:n.325+3509C>T | |
| ENST00000228347.8:c.3137G>A | ENSP00000228347.4:p.Arg1046His |
| ENST00000539066.5:c.2963G>A | ENSP00000445721.1:p.Arg988His |