Linked Data
ClinVar Variation Id:
1040719
ClinVar RCV Id:
RCV002547011
dbSNP Id:
rs1382239332
gnomAD v4:
14-75963412-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75963412T>C , CM000676.2:g.75963412T>C | GRCh38 |
| NC_000014.8:g.76429755T>C , CM000676.1:g.76429755T>C | GRCh37 |
| NC_000014.7:g.75499508T>C | NCBI36 |
| NG_011715.1:g.23338A>G , LRG_399:g.23338A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238682.8:c.830A>G (TGFB3) MANE Select | ENSP00000238682.3:p.His277Arg | |
| ENST00000556674.2:c.830A>G (TGFB3) | ENSP00000502685.1:p.His277Arg | |
| ENST00000238682.7:c.830A>G (TGFB3) | ENSP00000238682.3:p.His277Arg | |
| ENST00000554980.5:n.1211A>G (TGFB3) | ||
| ENST00000555677.5:n.90-25473T>C (IFT43) | ||
| ENST00000556285.1:c.830A>G (TGFB3) | ENSP00000451110.1:p.His277Arg | |
| ENST00000557493.1:n.296A>G (TGFB3) | ||
| NM_003239.3:c.830A>G (TGFB3) | NP_003230.1:p.His277Arg | |
| XM_005268028.1:c.830A>G (TGFB3) | XP_005268085.1:p.His277Arg | |
| NM_001329938.1:c.830A>G (TGFB3) | NP_001316867.1:p.His277Arg | |
| NM_001329939.1:c.830A>G (TGFB3) | NP_001316868.1:p.His277Arg | |
| NM_003239.4:c.830A>G (TGFB3) | NP_003230.1:p.His277Arg | |
| NM_001329938.2:c.830A>G (TGFB3) | NP_001316867.1:p.His277Arg | |
| NM_001329939.2:c.830A>G (TGFB3) | NP_001316868.1:p.His277Arg | |
| NM_003239.5:c.830A>G (TGFB3) MANE Select | NP_003230.1:p.His277Arg |