Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151888C= , CM000681.2:g.55151888C= | GRCh38 |
| NC_000019.9:g.55663256C= , CM000681.1:g.55663256C= | GRCh37 |
| NC_000019.8:g.60355068C= | NCBI36 |
| NG_007866.2:g.10845G= , LRG_432:g.10845G= | |
| NG_011829.2:g.2351G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000363.5:c.579G= MANE Select | NP_000354.4:p.Lys193= |
| ENST00000344887.10:c.579G= MANE Select | ENSP00000341838.5:p.Lys193= |
| NM_000363.4:c.579G= , LRG_432t1:c.579G= | NP_000354.4:p.Lys193= |
| ENST00000344887.9:c.579G= | ENSP00000341838.5:p.Lys193= |
| ENST00000585806.5:n.578G= | |
| ENST00000588882.1:c.504G= | ENSP00000466729.1:p.Lys168= |
| ENST00000589864.1:n.407G= | |
| ENST00000665070.1:c.612G= | ENSP00000499482.1:p.Lys204= |