Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179575966G>C , CM000663.2:g.179575966G>C | GRCh38 |
| NC_000001.10:g.179545101G>C , CM000663.1:g.179545101G>C | GRCh37 |
| NC_000001.9:g.177811724G>C | NCBI36 |
| NG_007535.1:g.4984C>G , LRG_887:g.4984C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005245483.2:c.-102C>G | XP_005245540.1:n.-102C>G | |
| XM_006711529.2:c.-102C>G | XP_006711592.1:n.-102C>G | |
| XM_005245483.3:c.-102C>G | XP_005245540.1:n.-102C>G | |
| XM_017002298.1:c.-102C>G | XP_016857787.1:n.-102C>G | |
| XM_017002299.1:c.-102C>G | XP_016857788.1:n.-102C>G |