Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151856C>T , CM000681.2:g.55151856C>T | GRCh38 |
| NC_000019.9:g.55663224C>T , CM000681.1:g.55663224C>T | GRCh37 |
| NC_000019.8:g.60355036C>T | NCBI36 |
| NG_007866.2:g.10877G>A , LRG_432:g.10877G>A | |
| NG_011829.2:g.2383G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.611G>A MANE Select | ENSP00000341838.5:p.Arg204His | |
| ENST00000665070.1:c.644G>A | ENSP00000499482.1:p.Arg215His | |
| ENST00000344887.9:c.611G>A | ENSP00000341838.5:p.Arg204His | |
| ENST00000585806.5:n.610G>A | ||
| ENST00000588882.1:c.536G>A | ENSP00000466729.1:p.Arg179His | |
| ENST00000589864.1:n.439G>A | ||
| NM_000363.4:c.611G>A , LRG_432t1:c.611G>A | NP_000354.4:p.Arg204His | |
| NM_000363.5:c.611G>A MANE Select | NP_000354.4:p.Arg204His |