Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216070157C>T , CM000663.2:g.216070157C>T | GRCh38 |
| NC_000001.10:g.216243499C>T , CM000663.1:g.216243499C>T | GRCh37 |
| NC_000001.9:g.214310122C>T | NCBI36 |
| NG_009497.1:g.358240G>A | |
| NG_009497.2:g.358292G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.5993G>A MANE Select | ENSP00000305941.3:p.Arg1998His | |
| ENST00000674083.1:c.5993G>A | ENSP00000501296.1:p.Arg1998His | |
| ENST00000307340.7:c.5993G>A | ENSP00000305941.3:p.Arg1998His | |
| NM_206933.2:c.5993G>A | NP_996816.2:p.Arg1998His | |
| NM_206933.3:c.5993G>A | NP_996816.2:p.Arg1998His | |
| NM_206933.4:c.5993G>A MANE Select | NP_996816.3:p.Arg1998His |