Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133766359C= , CM000665.2:g.133766359C= | GRCh38 |
| NC_000003.11:g.133485203C= , CM000665.1:g.133485203C= | GRCh37 |
| NC_000003.10:g.134967893C= | NCBI36 |
| NG_013080.1:g.25227C= | |
| NG_013080.2:g.109362C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.1412C= MANE Select | ENSP00000385834.3:p.Thr471= | |
| ENST00000402696.7:c.1412C= | ENSP00000385834.3:p.Thr471= | |
| ENST00000461695.1:c.82C= | ||
| NM_001063.3:c.1412C= | NP_001054.1:p.Thr471= | |
| XM_011513100.1:c.1412C= | XP_011511402.1:p.Thr471= | |
| NM_001354703.1:c.1280C= | NP_001341632.1:p.Thr427= | |
| NM_001354704.1:c.1031C= | NP_001341633.1:p.Thr344= | |
| NM_001063.4:c.1412C= MANE Select | NP_001054.2:p.Thr471= | |
| NM_001354703.2:c.1280C= | NP_001341632.2:p.Thr427= | |
| NM_001354704.2:c.1031C= | NP_001341633.2:p.Thr344= |