Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278348A= , CM000678.2:g.2278348A= | GRCh38 |
| NC_000016.9:g.2328349A= , CM000678.1:g.2328349A= | GRCh37 |
| NC_000016.8:g.2268350A= | NCBI36 |
| NG_011790.1:g.67399T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.4658T= MANE Select | NP_001080.2:p.Leu1553= |
| ENST00000301732.10:c.4658T= MANE Select | ENSP00000301732.5:p.Leu1553= |
| NM_001089.2:c.4658T= | NP_001080.2:p.Leu1553= |
| ENST00000301732.9:c.4658T= | ENSP00000301732.5:p.Leu1553= |
| ENST00000382381.7:c.4484T= | ENSP00000371818.3:p.Leu1495= |
| ENST00000566200.1:n.1179T= |