Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516338T>C , CM000679.2:g.75516338T>C | GRCh38 |
| NC_000017.10:g.73512419T>C , CM000679.1:g.73512419T>C | GRCh37 |
| NC_000017.9:g.71024014T>C | NCBI36 |
| NG_013041.1:g.4811T>C | |
| NG_033152.1:g.4246A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-131T>C | ENSP00000406559.4:n.-131T>C | |
| ENST00000679370.1:n.395T>C | ||
| ENST00000434205.7:c.-131T>C | ENSP00000406559.3:n.-131T>C | |
| XM_006721821.2:c.-296T>C | XP_006721884.1:n.-296T>C |