Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811713T= , CM000663.2:g.192811713T= | GRCh38 |
| NC_000001.10:g.192780843T= , CM000663.1:g.192780843T= | GRCh37 |
| NC_000001.9:g.191047466T= | NCBI36 |
| NG_012800.1:g.7675T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*117T= MANE Select | ENSP00000235382.5:n.*117T= | |
| ENST00000235382.6:c.*117T= | ENSP00000235382.5:n.*117T= | |
| NM_002923.3:c.*117T= | NP_002914.1:n.*117T= | |
| NM_002923.4:c.*117T= MANE Select | NP_002914.1:n.*117T= |