Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124183717C>G , CM000674.2:g.124183717C>G | GRCh38 |
| NC_000012.11:g.124668263C>G , CM000674.1:g.124668263C>G | GRCh37 |
| NC_000012.10:g.123234216C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389727.8:c.-37+33926C>G | ENSP00000374377.4:n.-37+33926C>G | |
| ENST00000545615.1:n.391+33926C>G | ||
| NM_001204299.1:c.-37+33926C>G | NP_001191228.1:n.-37+33926C>G | |
| NM_001204299.2:c.-37+33926C>G | NP_001191228.1:n.-37+33926C>G | |
| NM_001347902.1:c.-37+33926C>G | NP_001334831.1:n.-37+33926C>G | |
| NM_001204299.3:c.-37+33926C>G | NP_001191228.1:n.-37+33926C>G | |
| NM_001347902.2:c.-37+33926C>G | NP_001334831.1:n.-37+33926C>G |