Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76371518G>A , CM000676.2:g.76371518G>A | GRCh38 |
| NC_000014.8:g.76837861G>A , CM000676.1:g.76837861G>A | GRCh37 |
| NC_000014.7:g.75907614G>A | NCBI36 |
| NG_012278.1:g.5172G>A | |
| NG_012278.2:g.5172G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380887.7:c.-200G>A | ENSP00000370270.2:n.-200G>A | |
| ENST00000505752.6:c.-200G>A | ENSP00000423004.1:n.-200G>A | |
| ENST00000512784.6:c.2+60602G>A | ENSP00000424992.2:n.2+60602G>A | |
| ENST00000505752.5:c.-200G>A | ENSP00000423004.1:n.-200G>A | |
| ENST00000512784.5:c.2+60602G>A | ENSP00000424992.1:n.2+60602G>A | |
| NM_004452.3:c.-200G>A | NP_004443.3:n.-200G>A | |
| XM_011536548.1:c.-200G>A | XP_011534850.1:n.-200G>A | |
| NM_004452.4:c.-200G>A | NP_004443.3:n.-200G>A |