Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097855G>C , CM000685.2:g.154097855G>C | GRCh38 |
| NC_000023.10:g.153363312G>C , CM000685.1:g.153363312G>C | GRCh37 |
| NC_000023.9:g.153016506G>C | NCBI36 |
| NG_007107.2:g.44267C>G | |
| NG_007107.3:g.44249C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631210.1:n.305+6926C>G |