Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161684168G>C , CM000667.2:g.161684168G>C | GRCh38 |
| NC_000005.9:g.161111174G>C , CM000667.1:g.161111174G>C | GRCh37 |
| NC_000005.8:g.161043752G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000518888.1:n.293-1531G>C | |
| ENST00000522269.5:n.352-2062G>C |