Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133759306G= , CM000665.2:g.133759306G= | GRCh38 |
| NC_000003.11:g.133478150G= , CM000665.1:g.133478150G= | GRCh37 |
| NC_000003.10:g.134960840G= | NCBI36 |
| NG_013080.1:g.18174G= | |
| NG_013080.2:g.102309G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001063.4:c.1180G= MANE Select | NP_001054.2:p.Glu394= |
| ENST00000402696.9:c.1180G= MANE Select | ENSP00000385834.3:p.Glu394= |
| NM_001063.3:c.1180G= | NP_001054.1:p.Glu394= |
| NM_001354703.1:c.1048G= | NP_001341632.1:p.Glu350= |
| NM_001354703.2:c.1048G= | NP_001341632.2:p.Glu350= |
| NM_001354704.1:c.799G= | NP_001341633.1:p.Glu267= |
| NM_001354704.2:c.799G= | NP_001341633.2:p.Glu267= |
| ENST00000402696.7:c.1180G= | ENSP00000385834.3:p.Glu394= |
| XM_011513100.1:c.1180G= | XP_011511402.1:p.Glu394= |