Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989162G>T , CM000672.2:g.94989162G>T | GRCh38 |
| NC_000010.10:g.96748919G>T , CM000672.1:g.96748919G>T | GRCh37 |
| NC_000010.9:g.96738909G>T | NCBI36 |
| NG_008385.1:g.55505G>T | |
| NG_008385.2:g.56005G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*134G>T MANE Select | ENSP00000260682.6:n.*134G>T | |
| ENST00000643112.1:c.*616G>T | ENSP00000496202.1:n.*616G>T | |
| ENST00000260682.6:c.*134G>T | ENSP00000260682.6:n.*134G>T | |
| NM_000771.3:c.*134G>T | NP_000762.2:n.*134G>T | |
| NM_000771.4:c.*134G>T MANE Select | NP_000762.2:n.*134G>T |