Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868671C>A , CM000664.2:g.240868671C>A | GRCh38 |
| NC_000002.11:g.241808088C>A , CM000664.1:g.241808088C>A | GRCh37 |
| NC_000002.10:g.241456761C>A | NCBI36 |
| NG_008005.1:g.4927C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-195C>A | ENSP00000302620.3:n.-195C>A | |
| XR_924060.1:n.405+1562G>T |