Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106457147G>A , CM000674.2:g.106457147G>A | GRCh38 |
| NC_000012.11:g.106850925G>A , CM000674.1:g.106850925G>A | GRCh37 |
| NC_000012.10:g.105375055G>A | NCBI36 |
| NG_031837.1:g.104490G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228347.9:c.2303G>A MANE Select | ENSP00000228347.4:p.Arg768His | |
| ENST00000228347.8:c.2303G>A | ENSP00000228347.4:p.Arg768His | |
| ENST00000539066.5:c.2129G>A | ENSP00000445721.1:p.Arg710His | |
| NM_001160708.1:c.2129G>A | NP_001154180.1:p.Arg710His | |
| NM_018082.5:c.2303G>A | NP_060552.4:p.Arg768His | |
| XM_017019621.2:c.2303G>A | XP_016875110.1:p.Arg768His | |
| NM_018082.6:c.2303G>A MANE Select | NP_060552.4:p.Arg768His | |
| NM_001160708.2:c.2129G>A | NP_001154180.1:p.Arg710His |