Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564799G>T , CM000684.2:g.36564799G>T | GRCh38 |
| NC_000022.10:g.36960846G>T , CM000684.1:g.36960846G>T | GRCh37 |
| NC_000022.9:g.35290792G>T | NCBI36 |
| NG_031861.1:g.142845C>A | |
| NG_031861.2:g.143060C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.524C>A MANE Select | ENSP00000300105.6:p.Ser175Ter | |
| ENST00000300105.6:c.524C>A | ENSP00000300105.6:p.Ser175Ter | |
| NM_006078.3:c.524C>A | NP_006069.1:p.Ser175Ter | |
| NM_006078.4:c.524C>A | NP_006069.1:p.Ser175Ter | |
| XM_017028531.2:c.266C>A | XP_016884020.1:p.Ser89Ter | |
| NM_001379051.1:c.455C>A | NP_001365980.1:p.Ser152Ter | |
| NM_006078.5:c.524C>A MANE Select | NP_006069.1:p.Ser175Ter | |
| NR_166440.1:n.1890C>A |