Linked Data
ClinVar Variation Id:
456144
dbSNP Id:
rs72552377
ExAC:
16:89862367 C / A
gnomAD v2:
16-89862367-C-A
gnomAD v4:
16-89795959-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89795959C>A , CM000678.2:g.89795959C>A | GRCh38 |
| NC_000016.9:g.89862367C>A , CM000678.1:g.89862367C>A | GRCh37 |
| NC_000016.8:g.88389868C>A | NCBI36 |
| NG_011706.1:g.25699G>T , LRG_495:g.25699G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.953G>T | ENSP00000512522.1:p.Arg318Met | |
| ENST00000563767.2:n.848G>T | ||
| ENST00000564475.6:c.953G>T | ENSP00000454977.2:p.Arg318Met | |
| ENST00000567205.2:c.953G>T | ENSP00000457027.2:p.Arg318Met | |
| ENST00000567284.7:n.996G>T | ||
| ENST00000567621.6:c.893+3207G>T | ENSP00000456762.2:n.893+3207G>T | |
| ENST00000568369.6:c.953G>T | ENSP00000456829.1:p.Arg318Met | |
| ENST00000696274.1:n.967+3207G>T | ||
| ENST00000696275.1:c.*188G>T | ENSP00000512517.1:n.*188G>T | |
| ENST00000696276.1:n.996G>T | ||
| ENST00000696277.1:c.953G>T | ENSP00000512518.1:p.Arg318Met | |
| ENST00000696286.1:c.953G>T | ENSP00000512523.1:p.Arg318Met | |
| ENST00000696287.1:c.953G>T | ENSP00000512524.1:p.Arg318Met | |
| ENST00000696291.1:c.*297G>T | ENSP00000512530.1:n.*297G>T | |
| ENST00000696292.1:c.1033G>T | ENSP00000512531.1:n.1033G>T | |
| ENST00000389301.8:c.953G>T MANE Select | ENSP00000373952.3:p.Arg318Met | |
| ENST00000389301.7:c.953G>T | ENSP00000373952.3:p.Arg318Met | |
| ENST00000566409.1:c.342G>T | ||
| ENST00000567621.5:c.370+3207G>T | ||
| ENST00000568369.5:c.953G>T | ENSP00000456829.1:p.Arg318Met | |
| NM_000135.2:c.953G>T , LRG_495t1:c.953G>T | NP_000126.2:p.Arg318Met | |
| NM_001286167.1:c.953G>T | NP_001273096.1:p.Arg318Met | |
| XM_005256294.3:c.953G>T | XP_005256351.1:p.Arg318Met | |
| XM_011522945.1:c.953G>T | XP_011521247.1:p.Arg318Met | |
| XM_011522946.1:c.-71G>T | XP_011521248.1:n.-71G>T | |
| XM_011522947.1:c.-18+3207G>T | XP_011521249.1:n.-18+3207G>T | |
| XM_011522948.1:c.953G>T | XP_011521250.1:p.Arg318Met | |
| XR_933244.1:n.996G>T | ||
| XR_933245.1:n.996G>T | ||
| XR_933246.1:n.996G>T | ||
| XR_933247.1:n.996G>T | ||
| NM_000135.3:c.953G>T | NP_000126.2:p.Arg318Met | |
| NM_001286167.2:c.953G>T | NP_001273096.1:p.Arg318Met | |
| XM_005256294.4:c.953G>T | XP_005256351.1:p.Arg318Met | |
| XM_011522945.2:c.953G>T | XP_011521247.1:p.Arg318Met | |
| XM_011522946.3:c.-71G>T | XP_011521248.1:n.-71G>T | |
| XM_011522947.2:c.-18+3207G>T | XP_011521249.1:n.-18+3207G>T | |
| XM_011522948.2:c.953G>T | XP_011521250.1:p.Arg318Met | |
| XM_017023044.2:c.953G>T | XP_016878533.1:p.Arg318Met | |
| XM_017023045.1:c.953G>T | XP_016878534.1:p.Arg318Met | |
| XM_017023046.1:c.953G>T | XP_016878535.1:p.Arg318Met | |
| XM_024450189.1:c.-71G>T | XP_024305957.1:n.-71G>T | |
| XR_001751866.1:n.996G>T | ||
| XR_001751867.1:n.996G>T | ||
| XR_001751868.2:n.936+3207G>T | ||
| XR_002957793.1:n.1125G>T | ||
| XR_933244.2:n.996G>T | ||
| XR_933245.2:n.996G>T | ||
| XR_933247.2:n.996G>T | ||
| NM_000135.4:c.953G>T MANE Select | NP_000126.2:p.Arg318Met | |
| NM_001286167.3:c.953G>T | NP_001273096.1:p.Arg318Met |