Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303744G>A , CM000675.2:g.48303744G>A | GRCh38 |
| NC_000013.10:g.48877880G>A , CM000675.1:g.48877880G>A | GRCh37 |
| NC_000013.9:g.47775881G>A | NCBI36 |
| NG_009009.1:g.4998G>A , LRG_517:g.4998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646097.1:c.-169G>A | ENSP00000496556.1:n.-169G>A |