Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151856C= , CM000681.2:g.55151856C= | GRCh38 |
| NC_000019.9:g.55663224C= , CM000681.1:g.55663224C= | GRCh37 |
| NC_000019.8:g.60355036C= | NCBI36 |
| NG_007866.2:g.10877G= , LRG_432:g.10877G= | |
| NG_011829.2:g.2383G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.611G= MANE Select | ENSP00000341838.5:p.Arg204= | |
| ENST00000665070.1:c.644G= | ENSP00000499482.1:p.Arg215= | |
| ENST00000344887.9:c.611G= | ENSP00000341838.5:p.Arg204= | |
| ENST00000585806.5:n.610G= | ||
| ENST00000588882.1:c.536G= | ENSP00000466729.1:p.Arg179= | |
| ENST00000589864.1:n.439G= | ||
| NM_000363.4:c.611G= , LRG_432t1:c.611G= | NP_000354.4:p.Arg204= | |
| NM_000363.5:c.611G= MANE Select | NP_000354.4:p.Arg204= |