Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.255870G>A , CM000669.2:g.255870G>A | GRCh38 |
| NC_000007.13:g.295836G>A , CM000669.1:g.295836G>A | GRCh37 |
| NG_033970.1:g.65506G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020223.4:c.1094G>A MANE Select | NP_064608.2:p.Gly365Asp |
| ENST00000313766.6:c.1094G>A MANE Select | ENSP00000322323.5:p.Gly365Asp |
| NM_020223.3:c.1094G>A | NP_064608.2:p.Gly365Asp |
| ENST00000313766.5:c.1094G>A | ENSP00000322323.5:p.Gly365Asp |
| ENST00000515795.1:n.751G>A | |
| XM_017012450.1:c.1355G>A | XP_016867939.1:p.Gly452Asp |
| XM_017012451.1:c.1352G>A | XP_016867940.1:p.Gly451Asp |
| XM_017012455.2:c.392G>A | XP_016867944.1:p.Gly131Asp |
| XR_242097.3:n.1241G>A |