Linked Data
ClinVar Variation Id:
408177
dbSNP Id:
rs778093769
ExAC:
16:89845355 C / T
gnomAD v2:
16-89845355-C-T
gnomAD v3:
16-89778947-C-T
gnomAD v4:
16-89778947-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89778947C>T , CM000678.2:g.89778947C>T | GRCh38 |
| NC_000016.9:g.89845355C>T , CM000678.1:g.89845355C>T | GRCh37 |
| NC_000016.8:g.88372856C>T | NCBI36 |
| NG_011706.1:g.42711G>A , LRG_495:g.42711G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.1772G>A | ENSP00000512522.1:p.Arg591Gln | |
| ENST00000564475.6:c.1772G>A | ENSP00000454977.2:p.Arg591Gln | |
| ENST00000567205.2:c.1772G>A | ENSP00000457027.2:p.Arg591Gln | |
| ENST00000567284.7:n.1815G>A | ||
| ENST00000567510.2:c.146G>A | ENSP00000455969.1:p.Arg49Gln | |
| ENST00000568369.6:c.1772G>A | ENSP00000456829.1:p.Arg591Gln | |
| ENST00000696274.1:n.1733G>A | ||
| ENST00000696275.1:c.*1007G>A | ENSP00000512517.1:n.*1007G>A | |
| ENST00000696276.1:n.1815G>A | ||
| ENST00000696286.1:c.1772G>A | ENSP00000512523.1:p.Arg591Gln | |
| ENST00000696287.1:c.1772G>A | ENSP00000512524.1:p.Arg591Gln | |
| ENST00000696291.1:c.*1116G>A | ENSP00000512530.1:n.*1116G>A | |
| ENST00000389301.8:c.1772G>A MANE Select | ENSP00000373952.3:p.Arg591Gln | |
| ENST00000389301.7:c.1772G>A | ENSP00000373952.3:p.Arg591Gln | |
| ENST00000567510.1:c.146G>A | ENSP00000455969.1:p.Arg49Gln | |
| ENST00000568369.5:c.1772G>A | ENSP00000456829.1:p.Arg591Gln | |
| NM_000135.2:c.1772G>A , LRG_495t1:c.1772G>A | NP_000126.2:p.Arg591Gln | |
| NM_001286167.1:c.1772G>A | NP_001273096.1:p.Arg591Gln | |
| XM_005256294.3:c.1772G>A | XP_005256351.1:p.Arg591Gln | |
| XM_011522945.1:c.1772G>A | XP_011521247.1:p.Arg591Gln | |
| XM_011522946.1:c.749G>A | XP_011521248.1:p.Arg250Gln | |
| XM_011522947.1:c.749G>A | XP_011521249.1:p.Arg250Gln | |
| XM_011522948.1:c.1772G>A | XP_011521250.1:p.Arg591Gln | |
| XR_933244.1:n.1815G>A | ||
| XR_933245.1:n.1815G>A | ||
| XR_933246.1:n.1815G>A | ||
| XR_933247.1:n.1815G>A | ||
| NM_000135.3:c.1772G>A | NP_000126.2:p.Arg591Gln | |
| NM_001286167.2:c.1772G>A | NP_001273096.1:p.Arg591Gln | |
| XM_005256294.4:c.1772G>A | XP_005256351.1:p.Arg591Gln | |
| XM_011522945.2:c.1772G>A | XP_011521247.1:p.Arg591Gln | |
| XM_011522946.3:c.749G>A | XP_011521248.1:p.Arg250Gln | |
| XM_011522947.2:c.749G>A | XP_011521249.1:p.Arg250Gln | |
| XM_011522948.2:c.1772G>A | XP_011521250.1:p.Arg591Gln | |
| XM_017023044.2:c.1772G>A | XP_016878533.1:p.Arg591Gln | |
| XM_017023045.1:c.1772G>A | XP_016878534.1:p.Arg591Gln | |
| XM_024450189.1:c.749G>A | XP_024305957.1:p.Arg250Gln | |
| XR_001751866.1:n.1815G>A | ||
| XR_933244.2:n.1815G>A | ||
| XR_933245.2:n.1815G>A | ||
| XR_933247.2:n.1815G>A | ||
| NM_000135.4:c.1772G>A MANE Select | NP_000126.2:p.Arg591Gln | |
| NM_001286167.3:c.1772G>A | NP_001273096.1:p.Arg591Gln |