Linked Data
dbSNP Id:
rs1412685785
gnomAD v2:
22-36960799-C-T
gnomAD v3:
22-36564752-C-T
gnomAD v4:
22-36564752-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564752C>T , CM000684.2:g.36564752C>T | GRCh38 |
| NC_000022.10:g.36960799C>T , CM000684.1:g.36960799C>T | GRCh37 |
| NC_000022.9:g.35290745C>T | NCBI36 |
| NG_031861.1:g.142892G>A | |
| NG_031861.2:g.143107G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.571G>A MANE Select | ENSP00000300105.6:p.Glu191Lys | |
| ENST00000300105.6:c.571G>A | ENSP00000300105.6:p.Glu191Lys | |
| NM_006078.3:c.571G>A | NP_006069.1:p.Glu191Lys | |
| NM_006078.4:c.571G>A | NP_006069.1:p.Glu191Lys | |
| XM_017028531.2:c.313G>A | XP_016884020.1:p.Glu105Lys | |
| NM_001379051.1:c.502G>A | NP_001365980.1:p.Glu168Lys | |
| NM_006078.5:c.571G>A MANE Select | NP_006069.1:p.Glu191Lys | |
| NR_166440.1:n.1937G>A |