Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8674603C>A , CM000678.2:g.8674603C>A | GRCh38 |
| NC_000016.9:g.8768460C>A , CM000678.1:g.8768460C>A | GRCh37 |
| NC_000016.8:g.8675961C>A | NCBI36 |
| NG_008432.1:g.5017C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268251.12:c.-150C>A | ENSP00000268251.8:n.-150C>A | |
| ENST00000564714.5:c.-172C>A | ENSP00000456392.1:n.-172C>A | |
| NM_020686.5:c.-150C>A | NP_065737.2:n.-150C>A |