Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43077064G>T , CM000672.2:g.43077064G>T | GRCh38 |
| NC_000010.10:g.43572512G>T , CM000672.1:g.43572512G>T | GRCh37 |
| NC_000010.9:g.42892518G>T | NCBI36 |
| NG_007489.1:g.4996G>T , LRG_518:g.4996G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000671844.1:c.-195G>T | ENSP00000500541.1:n.-195G>T | |
| ENST00000355710.7:c.-195G>T | ENSP00000347942.3:n.-195G>T | |
| XM_011540027.1:c.-195G>T | XP_011538329.1:n.-195G>T | |
| NM_020630.5:c.-195G>T | NP_065681.1:n.-195G>T | |
| NM_020975.5:c.-195G>T | NP_066124.1:n.-195G>T |