Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.97020914C>T , CM000669.2:g.97020914C>T | GRCh38 |
| NC_000007.13:g.96650226C>T , CM000669.1:g.96650226C>T | GRCh37 |
| NC_000007.12:g.96488162C>T | NCBI36 |
| NG_009220.1:g.8918G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648378.1:c.692G>A MANE Select | ENSP00000498116.1:p.Arg231His | |
| ENST00000222598.4:c.692G>A | ENSP00000222598.4:p.Arg231His | |
| ENST00000493764.1:n.814G>A | ||
| NM_005221.5:c.692G>A | NP_005212.1:p.Arg231His | |
| XM_005250185.2:c.308G>A | XP_005250242.1:p.Arg103His | |
| XM_011515860.1:c.*163G>A | XP_011514162.1:n.*163G>A | |
| NM_005221.6:c.692G>A MANE Select | NP_005212.1:p.Arg231His | |
| XM_005250185.3:c.308G>A | XP_005250242.1:p.Arg103His | |
| XM_017011803.1:c.308G>A | XP_016867292.1:p.Arg103His |