Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4094744C>A , CM000673.2:g.4094744C>A | GRCh38 |
| NC_000011.9:g.4115974C>A , CM000673.1:g.4115974C>A | GRCh37 |
| NC_000011.8:g.4072550C>A | NCBI36 |
| NG_016277.1:g.244042C>A , LRG_164:g.244042C>A | |
| NG_027992.2:g.5051C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001033.3:c.-269C>A | NP_001024.1:n.-269C>A |
| NM_001033.4:c.-269C>A | NP_001024.1:n.-269C>A |
| NM_001318064.1:c.-382C>A | NP_001304993.1:n.-382C>A |
| ENST00000532710.5:n.38C>A | |
| XM_011520277.1:c.-382C>A | XP_011518579.1:n.-382C>A |