Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70049617C>A , CM000667.2:g.70049617C>A | GRCh38 |
| NC_000005.9:g.69345444C>A , CM000667.1:g.69345444C>A | GRCh37 |
| NC_000005.8:g.69381200C>A | NCBI36 |
| NG_008728.1:g.5095C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380743.8:c.-69C>A | ENSP00000370119.4:n.-69C>A | |
| NM_017411.3:c.-69C>A | NP_059107.1:n.-69C>A | |
| NM_022875.2:c.-69C>A | NP_075013.1:n.-69C>A | |
| NM_022876.2:c.-69C>A | NP_075014.1:n.-69C>A | |
| NM_022877.2:c.-69C>A | NP_075015.1:n.-69C>A | |
| XR_948432.1:n.1054+61613C>A |