Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960444C>T , CM000670.2:g.47960444C>T | GRCh38 |
| NC_000008.10:g.48873004C>T , CM000670.1:g.48873004C>T | GRCh37 |
| NC_000008.9:g.49035557C>T | NCBI36 |
| NG_023435.1:g.4740G>A , LRG_162:g.4740G>A | |
| NG_032967.1:g.5242C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+124C>T | ENSP00000430329.1:n.-15+124C>T | |
| NM_005914.3:c.-701C>T | NP_005905.2:n.-701C>T | |
| NM_182746.2:c.-585C>T | NP_877423.1:n.-585C>T | |
| XM_005251234.1:c.-947C>T | XP_005251291.1:n.-947C>T |