Linked Data
ClinVar Variation Id:
1762280
ClinVar RCV Id:
RCV002421485
dbSNP Id:
rs778672048
ExAC:
14:76429769 A / T
gnomAD v2:
14-76429769-A-T
gnomAD v4:
14-75963426-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75963426A>T , CM000676.2:g.75963426A>T | GRCh38 |
| NC_000014.8:g.76429769A>T , CM000676.1:g.76429769A>T | GRCh37 |
| NC_000014.7:g.75499522A>T | NCBI36 |
| NG_011715.1:g.23324T>A , LRG_399:g.23324T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238682.8:c.816T>A (TGFB3) MANE Select | ENSP00000238682.3:p.Asp272Glu | |
| ENST00000556674.2:c.816T>A (TGFB3) | ENSP00000502685.1:p.Asp272Glu | |
| ENST00000238682.7:c.816T>A (TGFB3) | ENSP00000238682.3:p.Asp272Glu | |
| ENST00000554980.5:n.1197T>A (TGFB3) | ||
| ENST00000555677.5:n.90-25459A>T (IFT43) | ||
| ENST00000556285.1:c.816T>A (TGFB3) | ENSP00000451110.1:p.Asp272Glu | |
| ENST00000557493.1:n.282T>A (TGFB3) | ||
| NM_003239.3:c.816T>A (TGFB3) | NP_003230.1:p.Asp272Glu | |
| XM_005268028.1:c.816T>A (TGFB3) | XP_005268085.1:p.Asp272Glu | |
| NM_001329938.1:c.816T>A (TGFB3) | NP_001316867.1:p.Asp272Glu | |
| NM_001329939.1:c.816T>A (TGFB3) | NP_001316868.1:p.Asp272Glu | |
| NM_003239.4:c.816T>A (TGFB3) | NP_003230.1:p.Asp272Glu | |
| NM_001329938.2:c.816T>A (TGFB3) | NP_001316867.1:p.Asp272Glu | |
| NM_001329939.2:c.816T>A (TGFB3) | NP_001316868.1:p.Asp272Glu | |
| NM_003239.5:c.816T>A (TGFB3) MANE Select | NP_003230.1:p.Asp272Glu |