Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919708C= , CM000679.2:g.74919708C= | GRCh38 |
| NC_000017.10:g.72915803C= , CM000679.1:g.72915803C= | GRCh37 |
| NC_000017.9:g.70427398C= | NCBI36 |
| NG_007882.1:g.8549G= | |
| NG_033062.1:g.434C= | |
| NG_007882.2:g.8556G= | |
| NG_033062.2:g.434C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1128G= MANE Select | ENSP00000480279.1:p.Glu376= | |
| ENST00000579243.1:c.*727G= | ENSP00000462568.1:n.*727G= | |
| ENST00000614341.4:c.1128G= | ENSP00000480279.1:p.Glu376= | |
| NM_001282489.2:c.819G= | NP_001269418.1:p.Glu273= | |
| NM_173477.4:c.1128G= | NP_775748.2:p.Glu376= | |
| XM_011524296.1:c.819G= | XP_011522598.1:p.Glu273= | |
| XM_011524296.2:c.819G= | XP_011522598.1:p.Glu273= | |
| NM_173477.5:c.1128G= MANE Select | NP_775748.2:p.Glu376= | |
| NM_001282489.3:c.819G= | NP_001269418.1:p.Glu273= |