Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989160T= , CM000672.2:g.94989160T= | GRCh38 |
| NC_000010.10:g.96748917T= , CM000672.1:g.96748917T= | GRCh37 |
| NC_000010.9:g.96738907T= | NCBI36 |
| NG_008385.1:g.55503T= | |
| NG_008385.2:g.56003T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*132T= MANE Select | ENSP00000260682.6:n.*132T= | |
| ENST00000643112.1:c.*614T= | ENSP00000496202.1:n.*614T= | |
| ENST00000260682.6:c.*132T= | ENSP00000260682.6:n.*132T= | |
| NM_000771.3:c.*132T= | NP_000762.2:n.*132T= | |
| NM_000771.4:c.*132T= MANE Select | NP_000762.2:n.*132T= |