Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179575982C>A , CM000663.2:g.179575982C>A | GRCh38 |
| NC_000001.10:g.179545117C>A , CM000663.1:g.179545117C>A | GRCh37 |
| NC_000001.9:g.177811740C>A | NCBI36 |
| NG_007535.1:g.4968G>T , LRG_887:g.4968G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017002298.1:c.-118G>T | XP_016857787.1:n.-118G>T | |
| XM_017002299.1:c.-118G>T | XP_016857788.1:n.-118G>T |