Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322553C>G , CM000677.2:g.73322553C>G | GRCh38 |
| NC_000015.9:g.73614894C>G , CM000677.1:g.73614894C>G | GRCh37 |
| NC_000015.8:g.71401947C>G | NCBI36 |
| NG_009063.1:g.51712G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3540G>C MANE Select | ENSP00000261917.3:p.Leu1180= | |
| ENST00000261917.3:c.3540G>C | ENSP00000261917.3:p.Leu1180= | |
| NM_005477.2:c.3540G>C | NP_005468.1:p.Leu1180= | |
| XM_011521148.1:c.2322G>C | XP_011519450.1:p.Leu774= | |
| XM_011521148.2:c.2322G>C | XP_011519450.1:p.Leu774= | |
| NM_005477.3:c.3540G>C MANE Select | NP_005468.1:p.Leu1180= |