Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948900G>T , CM000679.2:g.16948900G>T | GRCh38 |
| NC_000017.10:g.16852214G>T , CM000679.1:g.16852214G>T | GRCh37 |
| NC_000017.9:g.16792939G>T | NCBI36 |
| NG_007281.1:g.28189C>A , LRG_120:g.28189C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.283C>A MANE Select | ENSP00000261652.2:p.Gln95Lys | |
| ENST00000261652.6:c.283C>A | ENSP00000261652.2:p.Gln95Lys | |
| ENST00000579315.5:c.283C>A | ENSP00000464069.1:p.Gln95Lys | |
| ENST00000581616.2:n.286C>A | ||
| ENST00000582931.5:n.187C>A | ||
| ENST00000583789.1:c.145C>A | ENSP00000462952.1:p.Gln49Lys | |
| ENST00000584950.5:c.145C>A | ENSP00000463582.1:p.Gln49Lys | |
| NM_012452.2:c.283C>A , LRG_120t1:c.283C>A | NP_036584.1:p.Gln95Lys | |
| NM_012452.3:c.283C>A MANE Select | NP_036584.1:p.Gln95Lys |