Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174724567G>A , CM000667.2:g.174724567G>A | GRCh38 |
| NC_000005.9:g.174151570G>A , CM000667.1:g.174151570G>A | GRCh37 |
| NC_000005.8:g.174084176G>A | NCBI36 |
| NG_008124.1:g.4996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.6:c.-93G>A | ENSP00000239243.5:n.-93G>A |