Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.127329196G= , CM000674.2:g.127329196G= | GRCh38 |
| NC_000012.11:g.127813741G= , CM000674.1:g.127813741G= | GRCh37 |
| NC_000012.10:g.126379694G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110057.1:n.202-4391C= |