Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42169535C>T , CM000679.2:g.42169535C>T | GRCh38 |
| NC_000017.10:g.40321553C>T , CM000679.1:g.40321553C>T | GRCh37 |
| NC_000017.9:g.37575079C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264661.4:c.1532G>A MANE Select | ENSP00000264661.2:p.Arg511His | |
| ENST00000264661.3:c.1532G>A | ENSP00000264661.2:p.Arg511His | |
| ENST00000607371.5:c.1532G>A | ENSP00000475564.1:p.Arg511His | |
| NM_012285.2:c.1532G>A | NP_036417.1:p.Arg511His | |
| XM_017024400.2:c.1532G>A | XP_016879889.1:p.Arg511His | |
| XM_017024401.2:c.1385G>A | XP_016879890.1:p.Arg462His | |
| XM_017024402.1:c.1352G>A | XP_016879891.1:p.Arg451His | |
| XM_017024403.2:c.1532G>A | XP_016879892.1:p.Arg511His | |
| NM_012285.3:c.1532G>A MANE Select | NP_036417.1:p.Arg511His |