Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10294607G>A , CM000665.2:g.10294607G>A | GRCh38 |
| NC_000003.11:g.10336291G>A , CM000665.1:g.10336291G>A | GRCh37 |
| NC_000003.10:g.10311291G>A | NCBI36 |
| NG_011560.1:g.3341C>T | |
| NG_033090.1:g.18656G>A | |
| NG_033090.2:g.18656G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492602.5:n.188-1271C>T |