Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519036C>T , CM000674.2:g.52519036C>T | GRCh38 |
| NC_000012.11:g.52912820C>T , CM000674.1:g.52912820C>T | GRCh37 |
| NC_000012.10:g.51199087C>T | NCBI36 |
| NG_008297.1:g.6424G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.680G>A MANE Select | ENSP00000252242.4:p.Arg227Lys | |
| ENST00000252242.8:c.680G>A | ENSP00000252242.4:p.Arg227Lys | |
| ENST00000549420.1:c.350G>A | ENSP00000447209.1:p.Arg117Lys | |
| ENST00000551013.1:n.208G>A | ||
| ENST00000551188.5:c.82G>A | ||
| ENST00000552629.5:n.778G>A | ||
| NM_000424.3:c.680G>A | NP_000415.2:p.Arg227Lys | |
| NM_000424.4:c.680G>A MANE Select | NP_000415.2:p.Arg227Lys |