Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43337729G>A , CM000663.2:g.43337729G>A | GRCh38 |
| NC_000001.10:g.43803400G>A , CM000663.1:g.43803400G>A | GRCh37 |
| NC_000001.9:g.43575987G>A | NCBI36 |
| NG_007525.1:g.4926G>A , LRG_510:g.4926G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011541478.1:c.-120G>A | XP_011539780.1:n.-120G>A | |
| XM_017001320.1:c.-120G>A | XP_016856809.1:n.-120G>A |