Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119401932C= , CM000665.2:g.119401932C= | GRCh38 |
| NC_000003.11:g.119120779C= , CM000665.1:g.119120779C= | GRCh37 |
| NC_000003.10:g.120603469C= | NCBI36 |
| NG_007665.2:g.112560C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020754.4:c.1180C= MANE Select | NP_065805.2:p.Gln394= |
| ENST00000264245.9:c.1180C= MANE Select | ENSP00000264245.4:p.Gln394= |
| NM_020754.3:c.1180C= | NP_065805.2:p.Gln394= |
| ENST00000264245.8:c.1180C= | ENSP00000264245.4:p.Gln394= |
| XM_005247671.3:c.1087C= | XP_005247728.1:p.Gln363= |
| XM_006713714.2:c.1120C= | XP_006713777.1:p.Gln374= |
| XM_006713714.3:c.1120C= | XP_006713777.1:p.Gln374= |
| XM_017006955.1:c.688C= | XP_016862444.1:p.Gln230= |