Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6534462C>A , CM000674.2:g.6534462C>A | GRCh38 |
| NC_000012.11:g.6643628C>A , CM000674.1:g.6643628C>A | GRCh37 |
| NC_000012.10:g.6513889C>A | NCBI36 |
| NG_007073.2:g.4972C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229239.9:c.-131C>A | ENSP00000229239.5:n.-131C>A | |
| NM_001289745.1:c.-223C>A | NP_001276674.1:n.-223C>A | |
| NM_002046.5:c.-131C>A | NP_002037.2:n.-131C>A |