Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70150560A= , CM000672.2:g.70150560A= | GRCh38 |
| NC_000010.10:g.71910316A= , CM000672.1:g.71910316A= | GRCh37 |
| NC_000010.9:g.71580322A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020150.5:c.*1916T= MANE Select | NP_064535.1:n.*1916T= |
| ENST00000373241.9:c.*1916T= MANE Select | ENSP00000362338.4:n.*1916T= |
| NM_001142648.1:c.*1916T= | NP_001136120.1:n.*1916T= |
| NM_001142648.2:c.*1916T= | NP_001136120.1:n.*1916T= |
| NM_020150.4:c.*1916T= | NP_064535.1:n.*1916T= |
| ENST00000373238.5:c.*1916T= | ENSP00000362335.1:n.*1916T= |
| ENST00000373241.8:c.*1916T= | ENSP00000362338.4:n.*1916T= |
| ENST00000373242.6:c.*1916T= | ENSP00000362339.1:n.*1916T= |
| ENST00000431664.6:c.2473T= | ENSP00000399698.2:n.2473T= |