Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960389G>A , CM000670.2:g.47960389G>A | GRCh38 |
| NC_000008.10:g.48872949G>A , CM000670.1:g.48872949G>A | GRCh37 |
| NC_000008.9:g.49035502G>A | NCBI36 |
| NG_023435.1:g.4795C>T , LRG_162:g.4795C>T | |
| NG_032967.1:g.5187G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+69G>A | ENSP00000430329.1:n.-15+69G>A | |
| NM_005914.3:c.-756G>A | NP_005905.2:n.-756G>A | |
| NM_182746.2:c.-640G>A | NP_877423.1:n.-640G>A | |
| XM_005251234.1:c.-1002G>A | XP_005251291.1:n.-1002G>A |