Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176700C>A , CM000678.2:g.176700C>A | GRCh38 |
| NC_000016.9:g.226699C>A , CM000678.1:g.226699C>A | GRCh37 |
| NC_000016.8:g.166699C>A | NCBI36 |
| NG_000006.1:g.37563C>A | |
| NG_059186.1:g.5050C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.-17C>A MANE Select | ENSP00000322421.5:n.-17C>A | |
| ENST00000472694.1:n.3C>A | ||
| NM_000558.4:c.-17C>A | NP_000549.1:n.-17C>A | |
| NM_000558.5:c.-17C>A MANE Select | NP_000549.1:n.-17C>A |