Linked Data
ClinVar Variation Id:
435120
dbSNP Id:
rs374312736
ExAC:
16:89836965 C / T
gnomAD v2:
16-89836965-C-T
gnomAD v3:
16-89770557-C-T
gnomAD v4:
16-89770557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89770557C>T , CM000678.2:g.89770557C>T | GRCh38 |
| NC_000016.9:g.89836965C>T , CM000678.1:g.89836965C>T | GRCh37 |
| NC_000016.8:g.88364466C>T | NCBI36 |
| NG_011706.1:g.51101G>A , LRG_495:g.51101G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*419G>A | ENSP00000512522.1:n.*419G>A | |
| ENST00000564475.6:c.2222+7G>A | ENSP00000454977.2:n.2222+7G>A | |
| ENST00000567205.2:c.2222+7G>A | ENSP00000457027.2:n.2222+7G>A | |
| ENST00000567284.7:n.2265+7G>A | ||
| ENST00000567510.2:c.718+7G>A | ENSP00000455969.1:n.718+7G>A | |
| ENST00000568369.6:c.2222+7G>A | ENSP00000456829.1:n.2222+7G>A | |
| ENST00000696274.1:n.2183+7G>A | ||
| ENST00000696275.1:c.*1457+7G>A | ENSP00000512517.1:n.*1457+7G>A | |
| ENST00000696276.1:n.2265+7G>A | ||
| ENST00000696286.1:c.2222+7G>A | ENSP00000512523.1:n.2222+7G>A | |
| ENST00000696287.1:c.2222+7G>A | ENSP00000512524.1:n.2222+7G>A | |
| ENST00000696291.1:c.*1645G>A | ENSP00000512530.1:n.*1645G>A | |
| ENST00000389301.8:c.2222+7G>A MANE Select | ENSP00000373952.3:n.2222+7G>A | |
| ENST00000389301.7:c.2222+7G>A | ENSP00000373952.3:n.2222+7G>A | |
| ENST00000561667.1:n.27G>A | ||
| ENST00000567284.6:n.446+7G>A | ||
| ENST00000568369.5:c.2222+7G>A | ENSP00000456829.1:n.2222+7G>A | |
| NM_000135.2:c.2222+7G>A , LRG_495t1:c.2222+7G>A | NP_000126.2:n.2222+7G>A | |
| NM_001286167.1:c.2222+7G>A | NP_001273096.1:n.2222+7G>A | |
| XM_005256294.3:c.2222+7G>A | XP_005256351.1:n.2222+7G>A | |
| XM_011522945.1:c.2222+7G>A | XP_011521247.1:n.2222+7G>A | |
| XM_011522946.1:c.1199+7G>A | XP_011521248.1:n.1199+7G>A | |
| XM_011522947.1:c.1199+7G>A | XP_011521249.1:n.1199+7G>A | |
| XM_011522948.1:c.2222+7G>A | XP_011521250.1:n.2222+7G>A | |
| XR_933244.1:n.2265+7G>A | ||
| XR_933245.1:n.2265+7G>A | ||
| XR_933246.1:n.2265+7G>A | ||
| XR_933247.1:n.2265+7G>A | ||
| NM_000135.3:c.2222+7G>A | NP_000126.2:n.2222+7G>A | |
| NM_001286167.2:c.2222+7G>A | NP_001273096.1:n.2222+7G>A | |
| XM_005256294.4:c.2222+7G>A | XP_005256351.1:n.2222+7G>A | |
| XM_011522945.2:c.2222+7G>A | XP_011521247.1:n.2222+7G>A | |
| XM_011522946.3:c.1199+7G>A | XP_011521248.1:n.1199+7G>A | |
| XM_011522947.2:c.1199+7G>A | XP_011521249.1:n.1199+7G>A | |
| XM_011522948.2:c.2222+7G>A | XP_011521250.1:n.2222+7G>A | |
| XM_017023044.2:c.2222+7G>A | XP_016878533.1:n.2222+7G>A | |
| XM_017023045.1:c.2222+7G>A | XP_016878534.1:n.2222+7G>A | |
| XM_024450189.1:c.1199+7G>A | XP_024305957.1:n.1199+7G>A | |
| XR_001751866.1:n.2265+7G>A | ||
| XR_933244.2:n.2265+7G>A | ||
| XR_933245.2:n.2265+7G>A | ||
| XR_933247.2:n.2265+7G>A | ||
| NM_000135.4:c.2222+7G>A MANE Select | NP_000126.2:n.2222+7G>A | |
| NM_001286167.3:c.2222+7G>A | NP_001273096.1:n.2222+7G>A |