Linked Data
ClinVar Variation Id:
12474
ClinVar RCV Id:
RCV000013292
dbSNP Id:
rs770828281
ExAC:
14:76447266 C / T
gnomAD v2:
14-76447266-C-T
gnomAD v3:
14-75980923-C-T
gnomAD v4:
14-75980923-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75980923C>T , CM000676.2:g.75980923C>T | GRCh38 |
| NC_000014.8:g.76447266C>T , CM000676.1:g.76447266C>T | GRCh37 |
| NC_000014.7:g.75517019C>T | NCBI36 |
| NG_011715.1:g.5827G>A , LRG_399:g.5827G>A | |
| NG_031957.1:g.171C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000238682.8:c.-30G>A (TGFB3) MANE Select | ENSP00000238682.3:n.-30G>A | |
| ENST00000556674.2:c.-30G>A (TGFB3) | ENSP00000502685.1:n.-30G>A | |
| ENST00000238682.7:c.-30G>A (TGFB3) | ENSP00000238682.3:n.-30G>A | |
| ENST00000555193.1:n.202G>A (TGFB3) | ||
| ENST00000555677.5:n.90-7962C>T (IFT43) | ||
| ENST00000556285.1:c.-30G>A (TGFB3) | ENSP00000451110.1:n.-30G>A | |
| NM_003239.3:c.-30G>A (TGFB3) | NP_003230.1:n.-30G>A | |
| XM_005268028.1:c.-30G>A (TGFB3) | XP_005268085.1:n.-30G>A | |
| NM_001329938.1:c.-30G>A (TGFB3) | NP_001316867.1:n.-30G>A | |
| NM_001329939.1:c.-30G>A (TGFB3) | NP_001316868.1:n.-30G>A | |
| NM_003239.4:c.-30G>A (TGFB3) | NP_003230.1:n.-30G>A | |
| NM_001329938.2:c.-30G>A (TGFB3) | NP_001316867.1:n.-30G>A | |
| NM_001329939.2:c.-30G>A (TGFB3) | NP_001316868.1:n.-30G>A | |
| NM_003239.5:c.-30G>A (TGFB3) MANE Select | NP_003230.1:n.-30G>A |