Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149285665G>A , CM000668.2:g.149285665G>A | GRCh38 |
| NC_000006.11:g.149606801G>A , CM000668.1:g.149606801G>A | GRCh37 |
| NC_000006.10:g.149648494G>A | NCBI36 |
| NG_021386.2:g.72742G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606202.1:c.-121+66889G>A | ENSP00000476139.1:n.-121+66889G>A | |
| NM_001292035.2:c.6+66889G>A | NP_001278964.1:n.6+66889G>A | |
| NM_001292035.3:c.6+66889G>A | NP_001278964.1:n.6+66889G>A |