Linked Data
ClinVar Variation Id:
1433598
dbSNP Id:
rs1474531974
gnomAD v2:
14-76427270-C-G
gnomAD v3:
14-75960927-C-G
gnomAD v4:
14-75960927-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75960927C>G , CM000676.2:g.75960927C>G | GRCh38 |
| NC_000014.8:g.76427270C>G , CM000676.1:g.76427270C>G | GRCh37 |
| NC_000014.7:g.75497023C>G | NCBI36 |
| NG_011715.1:g.25823G>C , LRG_399:g.25823G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238682.8:c.1076G>C (TGFB3) MANE Select | ENSP00000238682.3:p.Ser359Thr | |
| ENST00000556674.2:c.1076G>C (TGFB3) | ENSP00000502685.1:p.Ser359Thr | |
| ENST00000238682.7:c.1076G>C (TGFB3) | ENSP00000238682.3:p.Ser359Thr | |
| ENST00000554980.5:n.1457G>C (TGFB3) | ||
| ENST00000555677.5:n.90-27958C>G (IFT43) | ||
| ENST00000556507.1:n.31G>C (TGFB3) | ||
| ENST00000557493.1:n.542G>C (TGFB3) | ||
| NM_003239.3:c.1076G>C (TGFB3) | NP_003230.1:p.Ser359Thr | |
| XM_005268028.1:c.1076G>C (TGFB3) | XP_005268085.1:p.Ser359Thr | |
| NM_001329939.1:c.1076G>C (TGFB3) | NP_001316868.1:p.Ser359Thr | |
| NM_003239.4:c.1076G>C (TGFB3) | NP_003230.1:p.Ser359Thr | |
| NM_001329939.2:c.1076G>C (TGFB3) | NP_001316868.1:p.Ser359Thr | |
| NM_003239.5:c.1076G>C (TGFB3) MANE Select | NP_003230.1:p.Ser359Thr |