Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32644620A>T , CM000668.2:g.32644620A>T | GRCh38 |
| NC_000006.11:g.32612397A>T , CM000668.1:g.32612397A>T | GRCh37 |
| NC_000006.10:g.32720375A>T | NCBI36 |
| NG_032876.1:g.12215A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000460633.1:n.3008A>T | |
| XM_006715079.2:c.613+2367A>T | XP_006715142.1:n.613+2367A>T |
| XM_006715079.4:c.613+2367A>T | XP_006715142.1:n.613+2367A>T |