Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16132111G= , CM000663.2:g.16132111G= | GRCh38 |
| NC_000001.10:g.16458606G= , CM000663.1:g.16458606G= | GRCh37 |
| NC_000001.9:g.16331193G= | NCBI36 |
| NG_021396.1:g.28977C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.2278C= MANE Select | ENSP00000351209.5:p.Leu760= | |
| ENST00000358432.7:c.2278C= | ENSP00000351209.5:p.Leu760= | |
| NM_004431.3:c.2278C= | NP_004422.2:p.Leu760= | |
| NM_001329090.1:c.2116C= | NP_001316019.1:p.Leu706= | |
| NM_004431.4:c.2278C= | NP_004422.2:p.Leu760= | |
| NM_004431.5:c.2278C= MANE Select | NP_004422.2:p.Leu760= | |
| NM_001329090.2:c.2116C= | NP_001316019.1:p.Leu706= |