Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160139919C>A , CM000663.2:g.160139919C>A | GRCh38 |
| NC_000001.10:g.160109709C>A , CM000663.1:g.160109709C>A | GRCh37 |
| NC_000001.9:g.158376333C>A | NCBI36 |
| NG_008014.1:g.29162C>A , LRG_6:g.29162C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.2969C>A MANE Select | ENSP00000354490.3:p.Pro990His | |
| ENST00000361216.7:c.2969C>A | ENSP00000354490.3:p.Pro990His | |
| ENST00000392233.7:c.2943-7C>A | ENSP00000376066.3:n.2943-7C>A | |
| ENST00000447527.1:c.2050C>A | ||
| ENST00000463989.1:n.305C>A | ||
| NM_000702.3:c.2969C>A | NP_000693.1:p.Pro990His | |
| NM_000702.4:c.2969C>A MANE Select | NP_000693.1:p.Pro990His |