Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520346A= , CM000674.2:g.52520346A= | GRCh38 |
| NC_000012.11:g.52914130A= , CM000674.1:g.52914130A= | GRCh37 |
| NC_000012.10:g.51200397A= | NCBI36 |
| NG_008297.1:g.5114T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.-50T= MANE Select | ENSP00000252242.4:n.-50T= | |
| ENST00000252242.8:c.-50T= | ENSP00000252242.4:n.-50T= | |
| ENST00000546577.1:c.-12-38T= | ENSP00000449651.1:n.-12-38T= | |
| ENST00000549420.1:c.-50T= | ENSP00000447209.1:n.-50T= | |
| ENST00000551275.1:c.-50T= | ENSP00000448041.1:n.-50T= | |
| ENST00000552629.5:n.49T= | ||
| NM_000424.3:c.-50T= | NP_000415.2:n.-50T= | |
| NM_000424.4:c.-50T= MANE Select | NP_000415.2:n.-50T= |