Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367729T>A , CM000677.2:g.73367729T>A | GRCh38 |
| NC_000015.9:g.73660070T>A , CM000677.1:g.73660070T>A | GRCh37 |
| NC_000015.8:g.71447123T>A | NCBI36 |
| NG_009063.1:g.6536A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.542A>T MANE Select | ENSP00000261917.3:p.Gln181Leu | |
| ENST00000261917.3:c.542A>T | ENSP00000261917.3:p.Gln181Leu | |
| NM_005477.2:c.542A>T | NP_005468.1:p.Gln181Leu | |
| NM_005477.3:c.542A>T MANE Select | NP_005468.1:p.Gln181Leu |