Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119415194C= , CM000665.2:g.119415194C= | GRCh38 |
| NC_000003.11:g.119134041C= , CM000665.1:g.119134041C= | GRCh37 |
| NC_000003.10:g.120616731C= | NCBI36 |
| NG_007665.2:g.125822C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.3265C= MANE Select | ENSP00000264245.4:p.Gln1089= | |
| ENST00000264245.8:c.3265C= | ENSP00000264245.4:p.Gln1089= | |
| NM_020754.3:c.3265C= | NP_065805.2:p.Gln1089= | |
| XM_005247671.3:c.3172C= | XP_005247728.1:p.Gln1058= | |
| XM_006713714.2:c.3205C= | XP_006713777.1:p.Gln1069= | |
| XM_006713714.3:c.3205C= | XP_006713777.1:p.Gln1069= | |
| XM_017006955.1:c.2773C= | XP_016862444.1:p.Gln925= | |
| NM_020754.4:c.3265C= MANE Select | NP_065805.2:p.Gln1089= |