Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72080103C>T , CM000678.2:g.72080103C>T | GRCh38 |
| NC_000016.9:g.72114002C>T , CM000678.1:g.72114002C>T | GRCh37 |
| NC_000016.8:g.70671503C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000562153.5:c.284+8884G>A | ENSP00000454635.1:n.284+8884G>A |
| XM_017023377.2:c.284+8884G>A | XP_016878866.1:n.284+8884G>A |