Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960460C= , CM000670.2:g.47960460C= | GRCh38 |
| NC_000008.10:g.48873020C= , CM000670.1:g.48873020C= | GRCh37 |
| NC_000008.9:g.49035573C= | NCBI36 |
| NG_023435.1:g.4724G= , LRG_162:g.4724G= | |
| NG_032967.1:g.5258C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+140C= | ENSP00000430329.1:n.-15+140C= | |
| NM_005914.3:c.-685C= | NP_005905.2:n.-685C= | |
| NM_182746.2:c.-569C= | NP_877423.1:n.-569C= | |
| XM_005251234.1:c.-931C= | XP_005251291.1:n.-931C= |