Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960308C= , CM000670.2:g.47960308C= | GRCh38 |
| NC_000008.10:g.48872868C= , CM000670.1:g.48872868C= | GRCh37 |
| NC_000008.9:g.49035421C= | NCBI36 |
| NG_023435.1:g.4876G= , LRG_162:g.4876G= | |
| NG_032967.1:g.5106C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-27C= | ENSP00000430329.1:n.-27C= | |
| NM_005914.3:c.-837C= | NP_005905.2:n.-837C= | |
| NM_182746.2:c.-721C= | NP_877423.1:n.-721C= | |
| XM_005251234.1:c.-1083C= | XP_005251291.1:n.-1083C= |