Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135093866C>G , CM000668.2:g.135093866C>G | GRCh38 |
| NC_000006.11:g.135415004C>G , CM000668.1:g.135415004C>G | GRCh37 |
| NC_000006.10:g.135456697C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000529882.5:c.88+9062G>C | ENSP00000433030.1:n.88+9062G>C |