Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148826465C>A , CM000667.2:g.148826465C>A | GRCh38 |
| NC_000005.9:g.148206028C>A , CM000667.1:g.148206028C>A | GRCh37 |
| NC_000005.8:g.148186221C>A | NCBI36 |
| NG_016421.1:g.4873C>A | |
| NG_016421.2:g.4873C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.5:c.-367C>A | ENSP00000305372.4:n.-367C>A |