Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564666C>A , CM000684.2:g.36564666C>A | GRCh38 |
| NC_000022.10:g.36960713C>A , CM000684.1:g.36960713C>A | GRCh37 |
| NC_000022.9:g.35290659C>A | NCBI36 |
| NG_031861.1:g.142978G>T | |
| NG_031861.2:g.143193G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.657G>T MANE Select | ENSP00000300105.6:p.Gln219His | |
| ENST00000300105.6:c.657G>T | ENSP00000300105.6:p.Gln219His | |
| NM_006078.3:c.657G>T | NP_006069.1:p.Gln219His | |
| NM_006078.4:c.657G>T | NP_006069.1:p.Gln219His | |
| XM_017028531.2:c.399G>T | XP_016884020.1:p.Gln133His | |
| NM_001379051.1:c.588G>T | NP_001365980.1:p.Gln196His | |
| NM_006078.5:c.657G>T MANE Select | NP_006069.1:p.Gln219His | |
| NR_166440.1:n.2023G>T |