Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46097955A>T , CM000683.2:g.46097955A>T | GRCh38 |
| NC_000021.8:g.47517869A>T , CM000683.1:g.47517869A>T | GRCh37 |
| NC_000021.7:g.46342297A>T | NCBI36 |
| NG_008675.1:g.4837A>T , LRG_476:g.4837A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011529452.1:c.-28+285A>T | XP_011527754.1:n.-28+285A>T |