Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119923763C>T , CM000663.2:g.119923763C>T | GRCh38 |
| NC_000001.10:g.120466386C>T , CM000663.1:g.120466386C>T | GRCh37 |
| NC_000001.9:g.120267909C>T | NCBI36 |
| NG_008163.1:g.150891G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.4733G>A MANE Select | ENSP00000256646.2:p.Arg1578His | |
| ENST00000256646.6:c.4733G>A | ENSP00000256646.2:p.Arg1578His | |
| ENST00000493703.1:n.143G>A | ||
| NM_024408.3:c.4733G>A | NP_077719.2:p.Arg1578His | |
| XM_005270901.2:c.4616G>A | XP_005270958.1:p.Arg1539His | |
| XM_011541519.1:c.4721G>A | XP_011539821.1:p.Arg1574His | |
| XM_011541520.1:c.4616G>A | XP_011539822.1:p.Arg1539His | |
| NM_024408.4:c.4733G>A MANE Select | NP_077719.2:p.Arg1578His |