Linked Data
ClinVar Variation Id:
422374
ClinVar RCV Id:
RCV000483454
dbSNP Id:
rs764553192
ExAC:
14:76429650 C / CA
gnomAD v2:
14-76429650-C-CA
gnomAD v4:
14-75963307-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75963308dup , CM000676.2:g.75963308dup | GRCh38 |
| NC_000014.8:g.76429651dup , CM000676.1:g.76429651dup | GRCh37 |
| NC_000014.7:g.75499404dup | NCBI36 |
| NG_011715.1:g.23442dup , LRG_399:g.23442dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238682.8:c.926+8dup (TGFB3) MANE Select | ENSP00000238682.3:n.926+8dup | |
| ENST00000556674.2:c.926+8dup (TGFB3) | ENSP00000502685.1:n.926+8dup | |
| ENST00000238682.7:c.926+8dup (TGFB3) | ENSP00000238682.3:n.926+8dup | |
| ENST00000554980.5:n.1307+8dup (TGFB3) | ||
| ENST00000555677.5:n.90-25577dup (IFT43) | ||
| ENST00000556285.1:c.*4dup (TGFB3) | ENSP00000451110.1:n.*4dup | |
| ENST00000557493.1:n.392+8dup (TGFB3) | ||
| NM_003239.3:c.926+8dup (TGFB3) | NP_003230.1:n.926+8dup | |
| XM_005268028.1:c.926+8dup (TGFB3) | XP_005268085.1:n.926+8dup | |
| NM_001329938.1:c.*4dup (TGFB3) | NP_001316867.1:n.*4dup | |
| NM_001329939.1:c.926+8dup (TGFB3) | NP_001316868.1:n.926+8dup | |
| NM_003239.4:c.926+8dup (TGFB3) | NP_003230.1:n.926+8dup | |
| NM_001329938.2:c.*4dup (TGFB3) | NP_001316867.1:n.*4dup | |
| NM_001329939.2:c.926+8dup (TGFB3) | NP_001316868.1:n.926+8dup | |
| NM_003239.5:c.926+8dup (TGFB3) MANE Select | NP_003230.1:n.926+8dup |