Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106940198T>C , CM000685.2:g.106940198T>C | GRCh38 |
| NC_000023.10:g.106183428T>C , CM000685.1:g.106183428T>C | GRCh37 |
| NC_000023.9:g.106070084T>C | NCBI36 |
| NG_016392.1:g.65047A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000604604.1:c.111+53032A>G |