Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101238122G>A , CM000669.2:g.101238122G>A | GRCh38 |
| NC_000007.13:g.100881403G>A , CM000669.1:g.100881403G>A | GRCh37 |
| NC_000007.12:g.100668123G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401528.5:c.-428C>T | ENSP00000385300.1:n.-428C>T | |
| NM_001185080.1:c.-428C>T | NP_001172009.1:n.-428C>T | |
| NM_001185080.2:c.-428C>T | NP_001172009.1:n.-428C>T |