Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133351844C= , CM000671.2:g.133351844C= | GRCh38 |
| NC_000009.10:g.135208520C= | NCBI36 |
| NG_008477.1:g.9663G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.*69G= MANE Select | ENSP00000361042.3:n.*69G= | |
| ENST00000371974.7:c.*69G= | ENSP00000361042.3:n.*69G= | |
| ENST00000615505.4:c.*69G= | ENSP00000482067.1:n.*69G= | |
| NM_001280787.1:c.*69G= | NP_001267716.1:n.*69G= | |
| NM_003172.3:c.*69G= | NP_003163.1:n.*69G= | |
| XM_011518942.1:c.*69G= | XP_011517244.1:n.*69G= | |
| NM_003172.4:c.*69G= MANE Select | NP_003163.1:n.*69G= |