Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133759306G>T , CM000665.2:g.133759306G>T | GRCh38 |
| NC_000003.11:g.133478150G>T , CM000665.1:g.133478150G>T | GRCh37 |
| NC_000003.10:g.134960840G>T | NCBI36 |
| NG_013080.1:g.18174G>T | |
| NG_013080.2:g.102309G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001063.4:c.1180G>T MANE Select | NP_001054.2:p.Glu394Ter |
| ENST00000402696.9:c.1180G>T MANE Select | ENSP00000385834.3:p.Glu394Ter |
| NM_001063.3:c.1180G>T | NP_001054.1:p.Glu394Ter |
| NM_001354703.1:c.1048G>T | NP_001341632.1:p.Glu350Ter |
| NM_001354703.2:c.1048G>T | NP_001341632.2:p.Glu350Ter |
| NM_001354704.1:c.799G>T | NP_001341633.1:p.Glu267Ter |
| NM_001354704.2:c.799G>T | NP_001341633.2:p.Glu267Ter |
| ENST00000402696.7:c.1180G>T | ENSP00000385834.3:p.Glu394Ter |
| XM_011513100.1:c.1180G>T | XP_011511402.1:p.Glu394Ter |