Linked Data
ClinVar Variation Id:
321339
dbSNP Id:
rs185527578
ExAC:
16:89815060 C / A
gnomAD v2:
16-89815060-C-A
gnomAD v3:
16-89748652-C-A
gnomAD v4:
16-89748652-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89748652C>A , CM000678.2:g.89748652C>A | GRCh38 |
| NC_000016.9:g.89815060C>A , CM000678.1:g.89815060C>A | GRCh37 |
| NC_000016.8:g.88342561C>A | NCBI36 |
| NG_011706.1:g.73006G>T , LRG_495:g.73006G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*1826+7G>T | ENSP00000512522.1:n.*1826+7G>T | |
| ENST00000564475.6:c.3348+7G>T | ENSP00000454977.2:n.3348+7G>T | |
| ENST00000567510.2:c.1918+7G>T | ENSP00000455969.1:n.1918+7G>T | |
| ENST00000568369.6:c.3348+7G>T | ENSP00000456829.1:n.3348+7G>T | |
| ENST00000568983.6:n.367+7G>T | ||
| ENST00000696274.1:n.3309+7G>T | ||
| ENST00000696275.1:c.*2583+7G>T | ENSP00000512517.1:n.*2583+7G>T | |
| ENST00000696286.1:c.3348+7G>T | ENSP00000512523.1:n.3348+7G>T | |
| ENST00000696287.1:c.3219+7G>T | ENSP00000512524.1:n.3219+7G>T | |
| ENST00000696291.1:c.*2780+7G>T | ENSP00000512530.1:n.*2780+7G>T | |
| ENST00000389301.8:c.3348+7G>T MANE Select | ENSP00000373952.3:n.3348+7G>T | |
| ENST00000305699.15:n.591+7G>T | ||
| ENST00000389301.7:c.3348+7G>T | ENSP00000373952.3:n.3348+7G>T | |
| ENST00000561660.1:c.552+7G>T | ||
| ENST00000567988.5:c.600+7G>T | ||
| ENST00000568369.5:c.3348+7G>T | ENSP00000456829.1:n.3348+7G>T | |
| ENST00000568626.1:c.196+7G>T | ||
| ENST00000568983.5:n.176+7G>T | ||
| NM_000135.2:c.3348+7G>T , LRG_495t1:c.3348+7G>T | NP_000126.2:n.3348+7G>T | |
| NM_001286167.1:c.3348+7G>T | NP_001273096.1:n.3348+7G>T | |
| XM_005256294.3:c.3348+7G>T | XP_005256351.1:n.3348+7G>T | |
| XM_011522945.1:c.3219+7G>T | XP_011521247.1:n.3219+7G>T | |
| XM_011522946.1:c.2325+7G>T | XP_011521248.1:n.2325+7G>T | |
| XM_011522947.1:c.2325+7G>T | XP_011521249.1:n.2325+7G>T | |
| XR_933244.1:n.3391+7G>T | ||
| XR_933245.1:n.3391+7G>T | ||
| XR_933246.1:n.3218+7G>T | ||
| NM_000135.3:c.3348+7G>T | NP_000126.2:n.3348+7G>T | |
| NM_001286167.2:c.3348+7G>T | NP_001273096.1:n.3348+7G>T | |
| XM_005256294.4:c.3348+7G>T | XP_005256351.1:n.3348+7G>T | |
| XM_011522945.2:c.3219+7G>T | XP_011521247.1:n.3219+7G>T | |
| XM_011522946.3:c.2325+7G>T | XP_011521248.1:n.2325+7G>T | |
| XM_011522947.2:c.2325+7G>T | XP_011521249.1:n.2325+7G>T | |
| XM_017023044.2:c.3219+7G>T | XP_016878533.1:n.3219+7G>T | |
| XM_024450189.1:c.2325+7G>T | XP_024305957.1:n.2325+7G>T | |
| XR_001751866.1:n.3218+7G>T | ||
| XR_933244.2:n.3391+7G>T | ||
| XR_933245.2:n.3391+7G>T | ||
| NM_000135.4:c.3348+7G>T MANE Select | NP_000126.2:n.3348+7G>T | |
| NM_001286167.3:c.3348+7G>T | NP_001273096.1:n.3348+7G>T |