Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154215A= , CM000681.2:g.55154215A= | GRCh38 |
| NC_000019.9:g.55665583A= , CM000681.1:g.55665583A= | GRCh37 |
| NC_000019.8:g.60357395A= | NCBI36 |
| NG_007866.2:g.8518T= , LRG_432:g.8518T= | |
| NG_011829.2:g.24T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.373-9T= MANE Select | ENSP00000341838.5:n.373-9T= | |
| ENST00000665070.1:c.406-9T= | ENSP00000499482.1:n.406-9T= | |
| ENST00000344887.9:c.373-9T= | ENSP00000341838.5:n.373-9T= | |
| ENST00000585806.5:n.372-9T= | ||
| ENST00000586669.5:n.381-9T= | ||
| ENST00000588882.1:c.298-9T= | ENSP00000466729.1:n.298-9T= | |
| ENST00000589864.1:n.192T= | ||
| NM_000363.4:c.373-9T= , LRG_432t1:c.373-9T= | NP_000354.4:n.373-9T= | |
| NM_000363.5:c.373-9T= MANE Select | NP_000354.4:n.373-9T= |