Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44385998C>T , CM000672.2:g.44385998C>T | GRCh38 |
| NC_000010.10:g.44881446C>T , CM000672.1:g.44881446C>T | GRCh37 |
| NC_000010.9:g.44201452C>T | NCBI36 |
| NG_016861.1:g.4100G>A | |
| NG_016861.2:g.4100G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496375.1:n.496G>A |