Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146907T= , CM000670.2:g.38146907T= | GRCh38 |
| NC_000008.10:g.38004425T= , CM000670.1:g.38004425T= | GRCh37 |
| NC_000008.9:g.38123582T= | NCBI36 |
| NG_011827.1:g.9176A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.307-460A= MANE Select | NP_000340.2:n.307-460A= |
| ENST00000276449.9:c.307-460A= MANE Select | ENSP00000276449.3:n.307-460A= |
| NM_000349.2:c.307-460A= | NP_000340.2:n.307-460A= |
| ENST00000276449.8:c.307-460A= | ENSP00000276449.3:n.307-460A= |
| ENST00000520114.1:n.794-460A= | |
| ENST00000521236.1:c.61-460A= | ENSP00000430030.1:n.61-460A= |
| ENST00000522050.1:c.243-460A= | |
| XM_006716392.1:c.307-460A= | XP_006716455.1:n.307-460A= |