Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33572432A>G , CM000668.2:g.33572432A>G | GRCh38 |
| NC_000006.11:g.33540209A>G , CM000668.1:g.33540209A>G | GRCh37 |
| NC_000006.10:g.33648187A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612409.1:n.248+1621A>G |