Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227261C>T , CM000673.2:g.5227261C>T | GRCh38 |
| NC_000011.9:g.5248491C>T , CM000673.1:g.5248491C>T | GRCh37 |
| NC_000011.8:g.5205067C>T | NCBI36 |
| NG_000007.3:g.70355G>A | |
| NG_059281.1:g.4811G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000380315.2:c.-18-222G>A | ENSP00000369671.2:n.-18-222G>A |