Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404278C>A , CM000666.2:g.73404278C>A | GRCh38 |
| NC_000004.11:g.74269995C>A , CM000666.1:g.74269995C>A | GRCh37 |
| NC_000004.10:g.74488859C>A | NCBI36 |
| NG_009291.1:g.5024C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.8:c.-50C>A | ENSP00000295897.4:n.-50C>A | |
| ENST00000441319.5:c.48-91C>A | ENSP00000392541.1:n.48-91C>A | |
| ENST00000621628.4:c.-50C>A | ENSP00000480485.1:n.-50C>A | |
| NM_000477.5:c.-50C>A | NP_000468.1:n.-50C>A | |
| NM_000477.6:c.-50C>A | NP_000468.1:n.-50C>A |