Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76371490C>G , CM000676.2:g.76371490C>G | GRCh38 |
| NC_000014.8:g.76837833C>G , CM000676.1:g.76837833C>G | GRCh37 |
| NC_000014.7:g.75907586C>G | NCBI36 |
| NG_012278.1:g.5144C>G | |
| NG_012278.2:g.5144C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380887.7:c.-228C>G | ENSP00000370270.2:n.-228C>G | |
| ENST00000505752.6:c.-228C>G | ENSP00000423004.1:n.-228C>G | |
| ENST00000512784.6:c.2+60574C>G | ENSP00000424992.2:n.2+60574C>G | |
| ENST00000505752.5:c.-228C>G | ENSP00000423004.1:n.-228C>G | |
| ENST00000512784.5:c.2+60574C>G | ENSP00000424992.1:n.2+60574C>G | |
| NM_004452.3:c.-228C>G | NP_004443.3:n.-228C>G | |
| XM_011536548.1:c.-228C>G | XP_011534850.1:n.-228C>G | |
| NM_004452.4:c.-228C>G | NP_004443.3:n.-228C>G |