Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960337C= , CM000670.2:g.47960337C= | GRCh38 |
| NC_000008.10:g.48872897C= , CM000670.1:g.48872897C= | GRCh37 |
| NC_000008.9:g.49035450C= | NCBI36 |
| NG_023435.1:g.4847G= , LRG_162:g.4847G= | |
| NG_032967.1:g.5135C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+17C= | ENSP00000430329.1:n.-15+17C= | |
| NM_005914.3:c.-808C= | NP_005905.2:n.-808C= | |
| NM_182746.2:c.-692C= | NP_877423.1:n.-692C= | |
| XM_005251234.1:c.-1054C= | XP_005251291.1:n.-1054C= |