Linked Data
ClinVar Variation Id:
134262
dbSNP Id:
rs149112292
gnomAD v2:
16-89825107-G-T
gnomAD v4:
16-89758699-G-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89758699G>T , CM000678.2:g.89758699G>T | GRCh38 |
| NC_000016.9:g.89825107G>T , CM000678.1:g.89825107G>T | GRCh37 |
| NC_000016.8:g.88352608G>T | NCBI36 |
| NG_011706.1:g.62959C>A , LRG_495:g.62959C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*1459+3250C>A | ENSP00000512522.1:n.*1459+3250C>A | |
| ENST00000564475.6:c.2859C>A | ENSP00000454977.2:p.Asp953Glu | |
| ENST00000567510.2:c.1551+3250C>A | ENSP00000455969.1:n.1551+3250C>A | |
| ENST00000568369.6:c.2859C>A | ENSP00000456829.1:p.Asp953Glu | |
| ENST00000696274.1:n.2820C>A | ||
| ENST00000696275.1:c.*2094C>A | ENSP00000512517.1:n.*2094C>A | |
| ENST00000696286.1:c.2859C>A | ENSP00000512523.1:p.Asp953Glu | |
| ENST00000696287.1:c.2852+3250C>A | ENSP00000512524.1:n.2852+3250C>A | |
| ENST00000696291.1:c.*2498+6191C>A | ENSP00000512530.1:n.*2498+6191C>A | |
| ENST00000389301.8:c.2859C>A MANE Select | ENSP00000373952.3:p.Asp953Glu | |
| ENST00000305699.15:n.224+3250C>A | ||
| ENST00000389301.7:c.2859C>A | ENSP00000373952.3:p.Asp953Glu | |
| ENST00000561660.1:c.236C>A | ||
| ENST00000563318.1:c.421C>A | ||
| ENST00000563510.5:c.371+3250C>A | ||
| ENST00000567988.5:c.196C>A | ||
| ENST00000568369.5:c.2859C>A | ENSP00000456829.1:p.Asp953Glu | |
| NM_000135.2:c.2859C>A , LRG_495t1:c.2859C>A | NP_000126.2:p.Asp953Glu | |
| NM_001286167.1:c.2859C>A | NP_001273096.1:p.Asp953Glu | |
| XM_005256294.3:c.2859C>A | XP_005256351.1:p.Asp953Glu | |
| XM_011522945.1:c.2852+3250C>A | XP_011521247.1:n.2852+3250C>A | |
| XM_011522946.1:c.1836C>A | XP_011521248.1:p.Asp612Glu | |
| XM_011522947.1:c.1836C>A | XP_011521249.1:p.Asp612Glu | |
| XR_933244.1:n.2902C>A | ||
| XR_933245.1:n.2902C>A | ||
| XR_933246.1:n.2902C>A | ||
| NM_000135.3:c.2859C>A | NP_000126.2:p.Asp953Glu | |
| NM_001286167.2:c.2859C>A | NP_001273096.1:p.Asp953Glu | |
| XM_005256294.4:c.2859C>A | XP_005256351.1:p.Asp953Glu | |
| XM_011522945.2:c.2852+3250C>A | XP_011521247.1:n.2852+3250C>A | |
| XM_011522946.3:c.1836C>A | XP_011521248.1:p.Asp612Glu | |
| XM_011522947.2:c.1836C>A | XP_011521249.1:p.Asp612Glu | |
| XM_017023044.2:c.2852+3250C>A | XP_016878533.1:n.2852+3250C>A | |
| XM_024450189.1:c.1836C>A | XP_024305957.1:p.Asp612Glu | |
| XR_001751866.1:n.2902C>A | ||
| XR_933244.2:n.2902C>A | ||
| XR_933245.2:n.2902C>A | ||
| NM_000135.4:c.2859C>A MANE Select | NP_000126.2:p.Asp953Glu | |
| NM_001286167.3:c.2859C>A | NP_001273096.1:p.Asp953Glu |