gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042145C>A , CM000674.2:g.56042145C>A | GRCh38 |
| NC_000012.11:g.56435929C>A , CM000674.1:g.56435929C>A | GRCh37 |
| NC_000012.10:g.54722196C>A | NCBI36 |
| NG_023201.1:g.5244C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-22C>A | ENSP00000348849.5:n.-22C>A | |
| ENST00000646449.2:c.-22C>A MANE Select | ENSP00000496643.1:n.-22C>A | |
| ENST00000356464.9:c.-22C>A | ENSP00000348849.5:n.-22C>A | |
| ENST00000548590.1:n.6C>A | ||
| ENST00000552361.1:c.-22C>A | ENSP00000450339.1:n.-22C>A | |
| NM_001029.3:c.-22C>A | NP_001020.2:n.-22C>A | |
| NM_001029.5:c.-22C>A MANE Select | NP_001020.2:n.-22C>A |