Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168495403G>A , CM000667.2:g.168495403G>A | GRCh38 |
| NC_000005.9:g.167922408G>A , CM000667.1:g.167922408G>A | GRCh37 |
| NC_000005.8:g.167854986G>A | NCBI36 |
| NG_041809.1:g.13946G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231572.8:c.668G>A MANE Select | ENSP00000231572.3:p.Arg223His | |
| ENST00000231572.7:c.668G>A | ENSP00000231572.3:p.Arg223His | |
| ENST00000520013.5:c.*169G>A | ENSP00000429030.1:n.*169G>A | |
| NM_002887.3:c.668G>A | NP_002878.2:p.Arg223His | |
| NM_002887.4:c.668G>A MANE Select | NP_002878.2:p.Arg223His |