Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27323162G>T , CM000664.2:g.27323162G>T | GRCh38 |
| NC_000002.11:g.27546029G>T , CM000664.1:g.27546029G>T | GRCh37 |
| NC_000002.10:g.27399533G>T | NCBI36 |
| NG_008075.1:g.4403C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357186.10:c.18+1271C>A | ENSP00000349713.6:n.18+1271C>A | |
| XM_005264327.2:c.-240C>A | XP_005264384.1:n.-240C>A |