Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960484A>C , CM000670.2:g.47960484A>C | GRCh38 |
| NC_000008.10:g.48873044A>C , CM000670.1:g.48873044A>C | GRCh37 |
| NC_000008.9:g.49035597A>C | NCBI36 |
| NG_023435.1:g.4700T>G , LRG_162:g.4700T>G | |
| NG_032967.1:g.5282A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+164A>C | ENSP00000430329.1:n.-15+164A>C | |
| NM_005914.3:c.-661A>C | NP_005905.2:n.-661A>C | |
| NM_182746.2:c.-545A>C | NP_877423.1:n.-545A>C | |
| XM_005251234.1:c.-907A>C | XP_005251291.1:n.-907A>C |