Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737253C>A , CM000678.2:g.68737253C>A | GRCh38 |
| NC_000016.9:g.68771156C>A , CM000678.1:g.68771156C>A | GRCh37 |
| NC_000016.8:g.67328657C>A | NCBI36 |
| NG_008021.1:g.4962C>A , LRG_301:g.4962C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.9:c.-163C>A | ENSP00000261769.4:n.-163C>A |