Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154077C>G , CM000681.2:g.55154077C>G | GRCh38 |
| NC_000019.9:g.55665445C>G , CM000681.1:g.55665445C>G | GRCh37 |
| NC_000019.8:g.60357257C>G | NCBI36 |
| NG_007866.2:g.8656G>C , LRG_432:g.8656G>C | |
| NG_011829.2:g.162G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.502G>C MANE Select | ENSP00000341838.5:p.Asp168His | |
| ENST00000665070.1:c.535G>C | ENSP00000499482.1:p.Asp179His | |
| ENST00000344887.9:c.502G>C | ENSP00000341838.5:p.Asp168His | |
| ENST00000585806.5:n.501G>C | ||
| ENST00000588882.1:c.427G>C | ENSP00000466729.1:p.Asp143His | |
| ENST00000589864.1:n.330G>C | ||
| NM_000363.4:c.502G>C , LRG_432t1:c.502G>C | NP_000354.4:p.Asp168His | |
| NM_000363.5:c.502G>C MANE Select | NP_000354.4:p.Asp168His |