Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154154G>T , CM000681.2:g.55154154G>T | GRCh38 |
| NC_000019.9:g.55665522G>T , CM000681.1:g.55665522G>T | GRCh37 |
| NC_000019.8:g.60357334G>T | NCBI36 |
| NG_007866.2:g.8579C>A , LRG_432:g.8579C>A | |
| NG_011829.2:g.85C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.425C>A MANE Select | ENSP00000341838.5:p.Pro142His | |
| ENST00000665070.1:c.458C>A | ENSP00000499482.1:p.Pro153His | |
| ENST00000344887.9:c.425C>A | ENSP00000341838.5:p.Pro142His | |
| ENST00000585806.5:n.424C>A | ||
| ENST00000586669.5:n.433C>A | ||
| ENST00000588882.1:c.350C>A | ENSP00000466729.1:p.Pro117His | |
| ENST00000589864.1:n.253C>A | ||
| NM_000363.4:c.425C>A , LRG_432t1:c.425C>A | NP_000354.4:p.Pro142His | |
| NM_000363.5:c.425C>A MANE Select | NP_000354.4:p.Pro142His |