Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781931C= , CM000672.2:g.94781931C= | GRCh38 |
| NC_000010.10:g.96541688C= , CM000672.1:g.96541688C= | GRCh37 |
| NC_000010.9:g.96531678C= | NCBI36 |
| NG_008384.2:g.24226C= | |
| NG_008384.3:g.24251C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.753C= MANE Select | ENSP00000360372.3:p.His251= | |
| ENST00000645461.1:n.1806C= | ||
| ENST00000371321.7:c.753C= | ENSP00000360372.3:p.His251= | |
| ENST00000464755.1:c.1516C= | ENSP00000483243.1:n.1516C= | |
| NM_000769.2:c.753C= | NP_000760.1:p.His251= | |
| NM_000769.4:c.753C= MANE Select | NP_000760.1:p.His251= |