Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13981738A>C , CM000674.2:g.13981738A>C | GRCh38 |
| NC_000012.11:g.14134672A>C , CM000674.1:g.14134672A>C | GRCh37 |
| NC_000012.10:g.14025939A>C | NCBI36 |
| NG_031854.1:g.3351T>G | |
| NG_031854.2:g.5275T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000630791.2:c.-682-162T>G | ENSP00000486677.2:n.-682-162T>G | |
| ENST00000627535.2:c.-448+178T>G | ENSP00000486411.1:n.-448+178T>G | |
| ENST00000630791.1:c.-682-162T>G | ENSP00000486677.1:n.-682-162T>G | |
| XM_011520629.1:c.-682-162T>G | XP_011518931.1:n.-682-162T>G | |
| XM_011520628.2:c.-844T>G | XP_011518930.1:n.-844T>G | |
| XM_011520629.2:c.-682-162T>G | XP_011518931.1:n.-682-162T>G |