Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493462C>T , CM000676.2:g.74493462C>T | GRCh38 |
| NC_000014.8:g.74960165C>T , CM000676.1:g.74960165C>T | GRCh37 |
| NC_000014.7:g.74029918C>T | NCBI36 |
| NG_007117.1:g.4920G>A | |
| NG_033074.1:g.4743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+108G>A | ENSP00000450887.1:n.-64+108G>A | |
| ENST00000555619.5:c.-188G>A | ENSP00000451112.1:n.-188G>A | |
| ENST00000556009.5:c.147+569G>A | ||
| NM_001363688.1:c.-188G>A | NP_001350617.1:n.-188G>A | |
| NM_006432.4:c.-188G>A | NP_006423.1:n.-188G>A |