Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1649756C>T , CM000679.2:g.1649756C>T | GRCh38 |
| NC_000017.10:g.1553050C>T , CM000679.1:g.1553050C>T | GRCh37 |
| NC_000017.9:g.1499800C>T | NCBI36 |
| NG_009118.1:g.40127G>A | |
| NG_033061.1:g.5343G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301336.7:c.49G>A MANE Select | ENSP00000301336.6:p.Glu17Lys | |
| ENST00000301336.6:c.49G>A | ENSP00000301336.6:p.Glu17Lys | |
| NM_031430.2:c.49G>A | NP_113618.2:p.Glu17Lys | |
| XM_005256811.1:c.49G>A | XP_005256868.1:p.Glu17Lys | |
| XM_017025195.1:c.49G>A | XP_016880684.1:p.Glu17Lys | |
| XR_001752657.1:n.322G>A | ||
| NM_031430.3:c.49G>A MANE Select | NP_113618.2:p.Glu17Lys |