Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43077063C>T , CM000672.2:g.43077063C>T | GRCh38 |
| NC_000010.10:g.43572511C>T , CM000672.1:g.43572511C>T | GRCh37 |
| NC_000010.9:g.42892517C>T | NCBI36 |
| NG_007489.1:g.4995C>T , LRG_518:g.4995C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355710.7:c.-196C>T | ENSP00000347942.3:n.-196C>T | |
| XM_011540027.1:c.-196C>T | XP_011538329.1:n.-196C>T | |
| NM_020630.5:c.-196C>T | NP_065681.1:n.-196C>T | |
| NM_020975.5:c.-196C>T | NP_066124.1:n.-196C>T |