Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103620665G>A , CM000663.2:g.103620665G>A | GRCh38 |
| NC_000001.10:g.104163287G>A , CM000663.1:g.104163287G>A | GRCh37 |
| NC_000001.9:g.103964810G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414303.7:c.859G>A MANE Select | ENSP00000397582.2:p.Glu287Lys | |
| ENST00000423678.2:c.628G>A | ENSP00000390832.2:p.Glu210Lys | |
| ENST00000414303.6:c.859G>A | ENSP00000397582.2:p.Glu287Lys | |
| ENST00000423678.1:c.623G>A | ||
| ENST00000622339.4:c.859G>A | ENSP00000481450.1:p.Glu287Lys | |
| NM_000699.3:c.859G>A | NP_000690.1:p.Glu287Lys | |
| NM_000699.4:c.859G>A MANE Select | NP_000690.1:p.Glu287Lys |