Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985912C>A , CM000678.2:g.1985912C>A | GRCh38 |
| NC_000016.9:g.2035913C>A , CM000678.1:g.2035913C>A | GRCh37 |
| NC_000016.8:g.1975914C>A | NCBI36 |
| NG_016288.1:g.6764C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.277C>A | ENSP00000455885.1:p.Gln93Lys | |
| ENST00000248114.7:c.502C>A MANE Select | ENSP00000248114.6:p.Gln168Lys | |
| ENST00000248114.6:c.502C>A | ENSP00000248114.6:p.Gln168Lys | |
| ENST00000565658.1:n.659C>A | ||
| ENST00000567719.1:c.277C>A | ENSP00000455885.1:p.Gln93Lys | |
| ENST00000569451.1:c.305C>A | ENSP00000456432.1:p.Thr102Lys | |
| NM_005262.2:c.502C>A | NP_005253.3:p.Gln168Lys | |
| NM_005262.3:c.502C>A MANE Select | NP_005253.3:p.Gln168Lys |