Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174221311G>A , CM000667.2:g.174221311G>A | GRCh38 |
| NC_000005.9:g.173648314G>A , CM000667.1:g.173648314G>A | GRCh37 |
| NC_000005.8:g.173580920G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521585.5:c.*18+16007G>A | ENSP00000429863.1:n.*18+16007G>A |