Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520369A= , CM000674.2:g.52520369A= | GRCh38 |
| NC_000012.11:g.52914153A= , CM000674.1:g.52914153A= | GRCh37 |
| NC_000012.10:g.51200420A= | NCBI36 |
| NG_008297.1:g.5091T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.-73T= MANE Select | ENSP00000252242.4:n.-73T= | |
| ENST00000252242.8:c.-73T= | ENSP00000252242.4:n.-73T= | |
| ENST00000546577.1:c.-13+28T= | ENSP00000449651.1:n.-13+28T= | |
| ENST00000549420.1:c.-73T= | ENSP00000447209.1:n.-73T= | |
| ENST00000551275.1:c.-73T= | ENSP00000448041.1:n.-73T= | |
| ENST00000552629.5:n.26T= | ||
| NM_000424.3:c.-73T= | NP_000415.2:n.-73T= | |
| NM_000424.4:c.-73T= MANE Select | NP_000415.2:n.-73T= |