Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176796C>A , CM000678.2:g.176796C>A | GRCh38 |
| NC_000016.9:g.226795C>A , CM000678.1:g.226795C>A | GRCh37 |
| NC_000016.8:g.166795C>A | NCBI36 |
| NG_000006.1:g.37659C>A | |
| NG_059186.1:g.5146C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.80C>A MANE Select | NP_000549.1:p.Ala27Glu |
| ENST00000320868.9:c.80C>A MANE Select | ENSP00000322421.5:p.Ala27Glu |
| NM_000558.4:c.80C>A | NP_000549.1:p.Ala27Glu |
| ENST00000397797.1:c.-2+34C>A | ENSP00000380899.1:n.-2+34C>A |
| ENST00000472694.1:n.99C>A | |
| ENST00000487791.1:n.49C>A |