Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55153868T= , CM000681.2:g.55153868T= | GRCh38 |
| NC_000019.9:g.55665236T= , CM000681.1:g.55665236T= | GRCh37 |
| NC_000019.8:g.60357048T= | NCBI36 |
| NG_007866.2:g.8865A= , LRG_432:g.8865A= | |
| NG_011829.2:g.371A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.549+162A= MANE Select | ENSP00000341838.5:n.549+162A= | |
| ENST00000665070.1:c.582+162A= | ENSP00000499482.1:n.582+162A= | |
| ENST00000344887.9:c.549+162A= | ENSP00000341838.5:n.549+162A= | |
| ENST00000585806.5:n.548+162A= | ||
| ENST00000588882.1:c.474+162A= | ENSP00000466729.1:n.474+162A= | |
| ENST00000589864.1:n.377+162A= | ||
| NM_000363.4:c.549+162A= , LRG_432t1:c.549+162A= | NP_000354.4:n.549+162A= | |
| NM_000363.5:c.549+162A= MANE Select | NP_000354.4:n.549+162A= |