Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516256T>C , CM000679.2:g.75516256T>C | GRCh38 |
| NC_000017.10:g.73512337T>C , CM000679.1:g.73512337T>C | GRCh37 |
| NC_000017.9:g.71023932T>C | NCBI36 |
| NG_013041.1:g.4729T>C | |
| NG_033152.1:g.4328A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-213T>C | ENSP00000406559.4:n.-213T>C | |
| ENST00000679370.1:n.313T>C | ||
| ENST00000434205.7:c.-213T>C | ENSP00000406559.3:n.-213T>C | |
| XM_006721821.2:c.-378T>C | XP_006721884.1:n.-378T>C |