Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149272784C>A , CM000668.2:g.149272784C>A | GRCh38 |
| NC_000006.11:g.149593920C>A , CM000668.1:g.149593920C>A | GRCh37 |
| NC_000006.10:g.149635613C>A | NCBI36 |
| NG_021386.2:g.59861C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001292035.2:c.6+54008C>A | NP_001278964.1:n.6+54008C>A |
| NM_001292035.3:c.6+54008C>A | NP_001278964.1:n.6+54008C>A |
| ENST00000606202.1:c.-121+54008C>A | ENSP00000476139.1:n.-121+54008C>A |