Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960434C>A , CM000670.2:g.47960434C>A | GRCh38 |
| NC_000008.10:g.48872994C>A , CM000670.1:g.48872994C>A | GRCh37 |
| NC_000008.9:g.49035547C>A | NCBI36 |
| NG_023435.1:g.4750G>T , LRG_162:g.4750G>T | |
| NG_032967.1:g.5232C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+114C>A | ENSP00000430329.1:n.-15+114C>A | |
| NM_005914.3:c.-711C>A | NP_005905.2:n.-711C>A | |
| NM_182746.2:c.-595C>A | NP_877423.1:n.-595C>A | |
| XM_005251234.1:c.-957C>A | XP_005251291.1:n.-957C>A |