Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13728665G>A , CM000673.2:g.13728665G>A | GRCh38 |
| NC_000011.9:g.13750212G>A , CM000673.1:g.13750212G>A | GRCh37 |
| NC_000011.8:g.13706788G>A | NCBI36 |
| NG_041826.1:g.65007G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703358.1:c.*264G>A | ENSP00000515269.1:n.*264G>A | |
| ENST00000354817.8:c.1439G>A MANE Select | ENSP00000346874.3:p.Arg480His | |
| ENST00000354817.7:c.1439G>A | ENSP00000346874.3:p.Arg480His | |
| ENST00000532502.1:c.311G>A | ENSP00000434624.1:p.Arg104His | |
| NM_032228.5:c.1439G>A | NP_115604.1:p.Arg480His | |
| XM_011520400.1:c.1448G>A | XP_011518702.1:p.Arg483His | |
| XM_011520401.1:c.1271G>A | XP_011518703.1:p.Arg424His | |
| XM_011520400.2:c.1448G>A | XP_011518702.1:p.Arg483His | |
| NM_032228.6:c.1439G>A MANE Select | NP_115604.1:p.Arg480His |