Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128775141T= , CM000669.2:g.128775141T= | GRCh38 |
| NC_000007.13:g.128415195T= , CM000669.1:g.128415195T= | GRCh37 |
| NC_000007.12:g.128202431T= | NCBI36 |
| NG_009094.1:g.5650A= | |
| NG_033110.1:g.40850T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001385125.1:c.357A= MANE Select | NP_001372054.1:p.Gly119= |
| ENST00000249389.3:c.357A= MANE Select | ENSP00000249389.3:p.Gly119= |
| NM_001708.2:c.366A= | NP_001699.1:p.Gly122= |
| ENST00000249389.2:c.366A= | ENSP00000249389.2:p.Gly122= |