Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155462637T= , CM000669.2:g.155462637T= | GRCh38 |
| NC_000007.13:g.155255332T= , CM000669.1:g.155255332T= | GRCh37 |
| NC_000007.12:g.154948093T= | NCBI36 |
| NG_007124.1:g.10918T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297375.4:c.952T= MANE Select | ENSP00000297375.4:p.Leu318= | |
| NM_001427.3:c.952T= | NP_001418.2:p.Leu318= | |
| NM_001427.4:c.952T= MANE Select | NP_001418.2:p.Leu318= |