Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27323112C>A , CM000664.2:g.27323112C>A | GRCh38 |
| NC_000002.11:g.27545979C>A , CM000664.1:g.27545979C>A | GRCh37 |
| NC_000002.10:g.27399483C>A | NCBI36 |
| NG_008075.1:g.4453G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357186.10:c.18+1321G>T | ENSP00000349713.6:n.18+1321G>T | |
| XM_005264327.2:c.-190G>T | XP_005264384.1:n.-190G>T |