Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18425669C>T , CM000685.2:g.18425669C>T | GRCh38 |
| NC_000023.10:g.18443789C>T , CM000685.1:g.18443789C>T | GRCh37 |
| NC_000023.9:g.18353710C>T | NCBI36 |
| NG_008475.1:g.5065C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001323289.2:c.-189C>T MANE Select | NP_001310218.1:n.-189C>T |
| ENST00000623535.2:c.-189C>T MANE Select | ENSP00000485244.1:n.-189C>T |
| NM_003159.2:c.-189C>T | NP_003150.1:n.-189C>T |
| NM_003159.3:c.-189C>T | NP_003150.1:n.-189C>T |
| ENST00000379996.7:c.-189C>T | ENSP00000369332.3:n.-189C>T |
| ENST00000674046.1:c.-189C>T | ENSP00000501174.1:n.-189C>T |
| XM_011545569.1:c.-189C>T | XP_011543871.1:n.-189C>T |
| XM_011545570.1:c.-275C>T | XP_011543872.1:n.-275C>T |
| XR_950484.1:n.64C>T |