Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106940285A>T , CM000685.2:g.106940285A>T | GRCh38 |
| NC_000023.10:g.106183515A>T , CM000685.1:g.106183515A>T | GRCh37 |
| NC_000023.9:g.106070171A>T | NCBI36 |
| NG_016392.1:g.64960T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000604604.1:c.111+52945T>A |