Linked Data
ClinVar Variation Id:
390113
dbSNP Id:
rs1057523647
gnomAD v4:
14-75971629-G-A
COSMIC:
COSM2138794
PubMed:
PMID:26188975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75971629G>A , CM000676.2:g.75971629G>A | GRCh38 |
| NC_000014.8:g.76437972G>A , CM000676.1:g.76437972G>A | GRCh37 |
| NC_000014.7:g.75507725G>A | NCBI36 |
| NG_011715.1:g.15121C>T , LRG_399:g.15121C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000238682.8:c.442C>T (TGFB3) MANE Select | ENSP00000238682.3:p.Arg148Ter | |
| ENST00000556674.2:c.442C>T (TGFB3) | ENSP00000502685.1:p.Arg148Ter | |
| ENST00000238682.7:c.442C>T (TGFB3) | ENSP00000238682.3:p.Arg148Ter | |
| ENST00000555677.5:n.90-17256G>A (IFT43) | ||
| ENST00000556285.1:c.442C>T (TGFB3) | ENSP00000451110.1:p.Arg148Ter | |
| NM_003239.3:c.442C>T (TGFB3) | NP_003230.1:p.Arg148Ter | |
| XM_005268028.1:c.442C>T (TGFB3) | XP_005268085.1:p.Arg148Ter | |
| NM_001329938.1:c.442C>T (TGFB3) | NP_001316867.1:p.Arg148Ter | |
| NM_001329939.1:c.442C>T (TGFB3) | NP_001316868.1:p.Arg148Ter | |
| NM_003239.4:c.442C>T (TGFB3) | NP_003230.1:p.Arg148Ter | |
| NM_001329938.2:c.442C>T (TGFB3) | NP_001316867.1:p.Arg148Ter | |
| NM_001329939.2:c.442C>T (TGFB3) | NP_001316868.1:p.Arg148Ter | |
| NM_003239.5:c.442C>T (TGFB3) MANE Select | NP_003230.1:p.Arg148Ter |