Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041927C>A , CM000674.2:g.56041927C>A | GRCh38 |
| NC_000012.11:g.56435711C>A , CM000674.1:g.56435711C>A | GRCh37 |
| NC_000012.10:g.54721978C>A | NCBI36 |
| NG_023201.1:g.5026C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-240C>A | ENSP00000348849.5:n.-240C>A | |
| ENST00000646449.2:c.-240C>A MANE Select | ENSP00000496643.1:n.-240C>A | |
| ENST00000356464.9:c.-240C>A | ENSP00000348849.5:n.-240C>A | |
| ENST00000552361.1:c.-172C>A | ENSP00000450339.1:n.-172C>A | |
| NM_001029.3:c.-240C>A | NP_001020.2:n.-240C>A | |
| NM_001029.5:c.-240C>A MANE Select | NP_001020.2:n.-240C>A | |
| XR_944989.3:n.77G>T | ||
| XR_944990.3:n.77G>T |