Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73343582G= , CM000677.2:g.73343582G= | GRCh38 |
| NC_000015.9:g.73635923G= , CM000677.1:g.73635923G= | GRCh37 |
| NC_000015.8:g.71422976G= | NCBI36 |
| NG_009063.1:g.30683C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1012C= MANE Select | ENSP00000261917.3:p.Leu338= | |
| ENST00000261917.3:c.1012C= | ENSP00000261917.3:p.Leu338= | |
| NM_005477.2:c.1012C= | NP_005468.1:p.Leu338= | |
| NM_005477.3:c.1012C= MANE Select | NP_005468.1:p.Leu338= |