Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179575963G>T , CM000663.2:g.179575963G>T | GRCh38 |
| NC_000001.10:g.179545098G>T , CM000663.1:g.179545098G>T | GRCh37 |
| NC_000001.9:g.177811721G>T | NCBI36 |
| NG_007535.1:g.4987C>A , LRG_887:g.4987C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005245483.2:c.-99C>A | XP_005245540.1:n.-99C>A | |
| XM_006711529.2:c.-99C>A | XP_006711592.1:n.-99C>A | |
| XM_005245483.3:c.-99C>A | XP_005245540.1:n.-99C>A | |
| XM_017002298.1:c.-99C>A | XP_016857787.1:n.-99C>A | |
| XM_017002299.1:c.-99C>A | XP_016857788.1:n.-99C>A |