Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55153699G= , CM000681.2:g.55153699G= | GRCh38 |
| NC_000019.9:g.55665067G= , CM000681.1:g.55665067G= | GRCh37 |
| NC_000019.8:g.60356879G= | NCBI36 |
| NG_007866.2:g.9034C= , LRG_432:g.9034C= | |
| NG_011829.2:g.540C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.549+331C= MANE Select | ENSP00000341838.5:n.549+331C= | |
| ENST00000665070.1:c.582+331C= | ENSP00000499482.1:n.582+331C= | |
| ENST00000344887.9:c.549+331C= | ENSP00000341838.5:n.549+331C= | |
| ENST00000585806.5:n.548+331C= | ||
| ENST00000588882.1:c.474+331C= | ENSP00000466729.1:n.474+331C= | |
| ENST00000589864.1:n.377+331C= | ||
| NM_000363.4:c.549+331C= , LRG_432t1:c.549+331C= | NP_000354.4:n.549+331C= | |
| NM_000363.5:c.549+331C= MANE Select | NP_000354.4:n.549+331C= |