Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981199G>A , CM000672.2:g.94981199G>A | GRCh38 |
| NC_000010.10:g.96740956G>A , CM000672.1:g.96740956G>A | GRCh37 |
| NC_000010.9:g.96730946G>A | NCBI36 |
| NG_008385.1:g.47542G>A | |
| NG_008385.2:g.48042G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.978G>A MANE Select | ENSP00000260682.6:p.Glu326= | |
| ENST00000643112.1:c.836G>A | ENSP00000496202.1:p.Arg279Lys | |
| ENST00000260682.6:c.978G>A | ENSP00000260682.6:p.Glu326= | |
| NM_000771.3:c.978G>A | NP_000762.2:p.Glu326= | |
| NM_000771.4:c.978G>A MANE Select | NP_000762.2:p.Glu326= |