Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520390C= , CM000674.2:g.52520390C= | GRCh38 |
| NC_000012.11:g.52914174C= , CM000674.1:g.52914174C= | GRCh37 |
| NC_000012.10:g.51200441C= | NCBI36 |
| NG_008297.1:g.5070G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.-94G= MANE Select | ENSP00000252242.4:n.-94G= | |
| ENST00000252242.8:c.-94G= | ENSP00000252242.4:n.-94G= | |
| ENST00000546577.1:c.-13+7G= | ENSP00000449651.1:n.-13+7G= | |
| ENST00000551275.1:c.-94G= | ENSP00000448041.1:n.-94G= | |
| ENST00000552629.5:n.5G= | ||
| NM_000424.3:c.-94G= | NP_000415.2:n.-94G= | |
| NM_000424.4:c.-94G= MANE Select | NP_000415.2:n.-94G= |