Linked Data
ClinVar Variation Id:
416064
dbSNP Id:
rs148029842
ExAC:
14:76437910 G / A
gnomAD v2:
14-76437910-G-A
gnomAD v3:
14-75971567-G-A
gnomAD v4:
14-75971567-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75971567G>A , CM000676.2:g.75971567G>A | GRCh38 |
| NC_000014.8:g.76437910G>A , CM000676.1:g.76437910G>A | GRCh37 |
| NC_000014.7:g.75507663G>A | NCBI36 |
| NG_011715.1:g.15183C>T , LRG_399:g.15183C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238682.8:c.504C>T (TGFB3) MANE Select | ENSP00000238682.3:p.Ile168= | |
| ENST00000556674.2:c.504C>T (TGFB3) | ENSP00000502685.1:p.Ile168= | |
| ENST00000238682.7:c.504C>T (TGFB3) | ENSP00000238682.3:p.Ile168= | |
| ENST00000555677.5:n.90-17318G>A (IFT43) | ||
| ENST00000556285.1:c.504C>T (TGFB3) | ENSP00000451110.1:p.Ile168= | |
| NM_003239.3:c.504C>T (TGFB3) | NP_003230.1:p.Ile168= | |
| XM_005268028.1:c.504C>T (TGFB3) | XP_005268085.1:p.Ile168= | |
| NM_001329938.1:c.504C>T (TGFB3) | NP_001316867.1:p.Ile168= | |
| NM_001329939.1:c.504C>T (TGFB3) | NP_001316868.1:p.Ile168= | |
| NM_003239.4:c.504C>T (TGFB3) | NP_003230.1:p.Ile168= | |
| NM_001329938.2:c.504C>T (TGFB3) | NP_001316867.1:p.Ile168= | |
| NM_001329939.2:c.504C>T (TGFB3) | NP_001316868.1:p.Ile168= | |
| NM_003239.5:c.504C>T (TGFB3) MANE Select | NP_003230.1:p.Ile168= |