Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.97021048C>A , CM000669.2:g.97021048C>A | GRCh38 |
| NC_000007.13:g.96650360C>A , CM000669.1:g.96650360C>A | GRCh37 |
| NC_000007.12:g.96488296C>A | NCBI36 |
| NG_009220.1:g.8784G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648378.1:c.558G>T MANE Select | ENSP00000498116.1:p.Gln186His | |
| ENST00000222598.4:c.558G>T | ENSP00000222598.4:p.Gln186His | |
| ENST00000493764.1:n.680G>T | ||
| NM_005221.5:c.558G>T | NP_005212.1:p.Gln186His | |
| XM_005250185.2:c.174G>T | XP_005250242.1:p.Gln58His | |
| XM_011515860.1:c.*29G>T | XP_011514162.1:n.*29G>T | |
| XR_927389.1:n.915G>T | ||
| NM_005221.6:c.558G>T MANE Select | NP_005212.1:p.Gln186His | |
| XM_005250185.3:c.174G>T | XP_005250242.1:p.Gln58His | |
| XM_017011803.1:c.174G>T | XP_016867292.1:p.Gln58His |