Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6534464G>T , CM000674.2:g.6534464G>T | GRCh38 |
| NC_000012.11:g.6643630G>T , CM000674.1:g.6643630G>T | GRCh37 |
| NC_000012.10:g.6513891G>T | NCBI36 |
| NG_007073.2:g.4974G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229239.9:c.-129G>T | ENSP00000229239.5:n.-129G>T | |
| NM_001289745.1:c.-221G>T | NP_001276674.1:n.-221G>T | |
| NM_002046.5:c.-129G>T | NP_002037.2:n.-129G>T |