Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038310G>A , CM000668.2:g.32038310G>A | GRCh38 |
| NC_000006.11:g.32006087G>A , CM000668.1:g.32006087G>A | GRCh37 |
| NC_000006.10:g.32114066G>A | NCBI36 |
| NG_007941.2:g.5006G>A | |
| NG_007941.3:g.5006G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001368143.1:c.-537G>A | NP_001355072.1:n.-537G>A |
| NM_001368144.1:c.-447G>A | NP_001355073.1:n.-447G>A |
| ENST00000418967.6:c.-113G>A | ENSP00000408860.2:n.-113G>A |