Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960437A>G , CM000670.2:g.47960437A>G | GRCh38 |
| NC_000008.10:g.48872997A>G , CM000670.1:g.48872997A>G | GRCh37 |
| NC_000008.9:g.49035550A>G | NCBI36 |
| NG_023435.1:g.4747T>C , LRG_162:g.4747T>C | |
| NG_032967.1:g.5235A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+117A>G | ENSP00000430329.1:n.-15+117A>G | |
| NM_005914.3:c.-708A>G | NP_005905.2:n.-708A>G | |
| NM_182746.2:c.-592A>G | NP_877423.1:n.-592A>G | |
| XM_005251234.1:c.-954A>G | XP_005251291.1:n.-954A>G |