Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74754827G>A , CM000677.2:g.74754827G>A | GRCh38 |
| NC_000015.9:g.75047168G>A , CM000677.1:g.75047168G>A | GRCh37 |
| NC_000015.8:g.72834221G>A | NCBI36 |
| NG_008431.1:g.37286G>A | |
| NG_008431.2:g.37286G>A | |
| NG_061543.1:g.10983G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1290G>A MANE Select | ENSP00000342007.4:p.Glu430= | |
| ENST00000343932.4:c.1290G>A | ENSP00000342007.4:p.Glu430= | |
| NM_000761.4:c.1290G>A | NP_000752.2:p.Glu430= | |
| NM_000761.5:c.1290G>A MANE Select | NP_000752.2:p.Glu430= |