Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493416G>T , CM000676.2:g.74493416G>T | GRCh38 |
| NC_000014.8:g.74960119G>T , CM000676.1:g.74960119G>T | GRCh37 |
| NC_000014.7:g.74029872G>T | NCBI36 |
| NG_007117.1:g.4966C>A | |
| NG_033074.1:g.4697G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-63-79C>A | ENSP00000450887.1:n.-63-79C>A | |
| ENST00000555619.5:c.-142C>A | ENSP00000451112.1:n.-142C>A | |
| ENST00000556009.5:c.147+615C>A | ||
| NM_001363688.1:c.-142C>A | NP_001350617.1:n.-142C>A | |
| NM_006432.4:c.-142C>A | NP_006423.1:n.-142C>A |