Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174221435T>G , CM000667.2:g.174221435T>G | GRCh38 |
| NC_000005.9:g.173648438T>G , CM000667.1:g.173648438T>G | GRCh37 |
| NC_000005.8:g.173581044T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000521585.5:c.*18+16131T>G | ENSP00000429863.1:n.*18+16131T>G |