Linked Data
ClinVar Variation Id:
966493
ClinVar RCV Id:
RCV001241182
dbSNP Id:
rs118029772
gnomAD v2:
5-131911469-G-T
gnomAD v4:
5-132575777-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132575777G>T , CM000667.2:g.132575777G>T | GRCh38 |
| NC_000005.9:g.131911469G>T , CM000667.1:g.131911469G>T | GRCh37 |
| NC_000005.8:g.131939368G>T | NCBI36 |
| NG_021151.1:g.23854G>T | |
| NG_021151.2:g.23801G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.214G>T MANE Select | ENSP00000368100.4:p.Val72Phe | |
| ENST00000638452.2:c.-84G>T | ENSP00000492349.2:n.-84G>T | |
| ENST00000638504.1:n.291G>T | ||
| ENST00000638568.2:c.-84G>T | ENSP00000491158.2:n.-84G>T | |
| ENST00000639899.1:n.374G>T | ||
| ENST00000640655.2:c.-84G>T | ENSP00000491596.2:n.-84G>T | |
| ENST00000651160.1:c.214G>T | ENSP00000498829.1:p.Val72Phe | |
| ENST00000651541.1:c.-84G>T | ENSP00000498795.1:n.-84G>T | |
| ENST00000651658.1:n.282G>T | ||
| ENST00000651723.1:c.*362G>T | ENSP00000498237.1:n.*362G>T | |
| ENST00000652016.1:c.214G>T | ENSP00000498267.1:p.Val72Phe | |
| ENST00000652485.1:c.214G>T | ENSP00000498973.1:p.Val72Phe | |
| ENST00000378823.7:c.214G>T | ENSP00000368100.4:p.Val72Phe | |
| ENST00000416135.5:c.-84G>T | ENSP00000389515.1:n.-84G>T | |
| ENST00000423956.5:c.214G>T | ENSP00000390971.1:p.Val72Phe | |
| ENST00000453394.5:c.214G>T | ENSP00000400049.1:p.Val72Phe | |
| ENST00000533482.5:c.214G>T | ENSP00000431225.1:p.Val72Phe | |
| NM_005732.3:c.214G>T | NP_005723.2:p.Val72Phe | |
| NM_005732.4:c.214G>T MANE Select | NP_005723.2:p.Val72Phe |