Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69810461G= , CM000673.2:g.69810461G= | GRCh38 |
| NC_000011.9:g.69625229G= , CM000673.1:g.69625229G= | GRCh37 |
| NC_000011.8:g.69334410G= | NCBI36 |
| NG_009016.1:g.13964C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334134.4:c.564C= MANE Select | ENSP00000334122.2:p.His188= | |
| ENST00000646078.1:n.411C= | ||
| ENST00000334134.2:c.564C= | ENSP00000334122.2:p.His188= | |
| NM_005247.2:c.564C= | NP_005238.1:p.His188= | |
| NM_005247.3:c.564C= | NP_005238.1:p.His188= | |
| NM_005247.4:c.564C= MANE Select | NP_005238.1:p.His188= |