Linked Data
ClinVar Variation Id:
216278
dbSNP Id:
rs769919783
ExAC:
16:89809270 G / C
gnomAD v2:
16-89809270-G-C
gnomAD v4:
16-89742862-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89742862G>C , CM000678.2:g.89742862G>C | GRCh38 |
| NC_000016.9:g.89809270G>C , CM000678.1:g.89809270G>C | GRCh37 |
| NC_000016.8:g.88336771G>C | NCBI36 |
| NG_011706.1:g.78796C>G , LRG_495:g.78796C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2181C>G | ENSP00000512522.1:n.*2181C>G | |
| ENST00000564475.6:c.3703C>G | ENSP00000454977.2:p.Gln1235Glu | |
| ENST00000567510.2:c.2273C>G | ENSP00000455969.1:n.2273C>G | |
| ENST00000568369.6:c.3703C>G | ENSP00000456829.1:p.Gln1235Glu | |
| ENST00000696274.1:n.3664C>G | ||
| ENST00000696275.1:c.*2938C>G | ENSP00000512517.1:n.*2938C>G | |
| ENST00000696286.1:c.3703C>G | ENSP00000512523.1:p.Gln1235Glu | |
| ENST00000696287.1:c.3574C>G | ENSP00000512524.1:p.Gln1192Glu | |
| ENST00000696291.1:c.*3135C>G | ENSP00000512530.1:n.*3135C>G | |
| ENST00000389301.8:c.3703C>G MANE Select | ENSP00000373952.3:p.Gln1235Glu | |
| ENST00000305699.15:n.946C>G | ||
| ENST00000389301.7:c.3703C>G | ENSP00000373952.3:p.Gln1235Glu | |
| ENST00000564475.5:c.33C>G | ||
| ENST00000564969.5:n.51-1996C>G | ||
| ENST00000567879.5:c.181C>G | ENSP00000457006.1:p.Gln61Glu | |
| ENST00000568369.5:c.3703C>G | ENSP00000456829.1:p.Gln1235Glu | |
| ENST00000568626.1:c.475-1996C>G | ||
| NM_000135.2:c.3703C>G , LRG_495t1:c.3703C>G | NP_000126.2:p.Gln1235Glu | |
| NM_001286167.1:c.3703C>G | NP_001273096.1:p.Gln1235Glu | |
| XM_005256294.3:c.3703C>G | XP_005256351.1:p.Gln1235Glu | |
| XM_011522945.1:c.3574C>G | XP_011521247.1:p.Gln1192Glu | |
| XM_011522946.1:c.2680C>G | XP_011521248.1:p.Gln894Glu | |
| XM_011522947.1:c.2680C>G | XP_011521249.1:p.Gln894Glu | |
| XR_933244.1:n.3746C>G | ||
| XR_933245.1:n.3670-1996C>G | ||
| XR_933246.1:n.3573C>G | ||
| NM_000135.3:c.3703C>G | NP_000126.2:p.Gln1235Glu | |
| NM_001286167.2:c.3703C>G | NP_001273096.1:p.Gln1235Glu | |
| XM_005256294.4:c.3703C>G | XP_005256351.1:p.Gln1235Glu | |
| XM_011522945.2:c.3574C>G | XP_011521247.1:p.Gln1192Glu | |
| XM_011522946.3:c.2680C>G | XP_011521248.1:p.Gln894Glu | |
| XM_011522947.2:c.2680C>G | XP_011521249.1:p.Gln894Glu | |
| XM_017023044.2:c.3574C>G | XP_016878533.1:p.Gln1192Glu | |
| XM_024450189.1:c.2680C>G | XP_024305957.1:p.Gln894Glu | |
| XR_001751866.1:n.3573C>G | ||
| XR_933244.2:n.3746C>G | ||
| XR_933245.2:n.3670-1996C>G | ||
| NM_000135.4:c.3703C>G MANE Select | NP_000126.2:p.Gln1235Glu | |
| NM_001286167.3:c.3703C>G | NP_001273096.1:p.Gln1235Glu |