Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174221423A>G , CM000667.2:g.174221423A>G | GRCh38 |
| NC_000005.9:g.173648426A>G , CM000667.1:g.173648426A>G | GRCh37 |
| NC_000005.8:g.173581032A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521585.5:c.*18+16119A>G | ENSP00000429863.1:n.*18+16119A>G |