Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149287582C>A , CM000668.2:g.149287582C>A | GRCh38 |
| NC_000006.11:g.149608718C>A , CM000668.1:g.149608718C>A | GRCh37 |
| NC_000006.10:g.149650411C>A | NCBI36 |
| NG_021386.2:g.74659C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606202.1:c.-121+68806C>A | ENSP00000476139.1:n.-121+68806C>A | |
| NM_001292035.2:c.6+68806C>A | NP_001278964.1:n.6+68806C>A | |
| NM_001292035.3:c.6+68806C>A | NP_001278964.1:n.6+68806C>A |