Linked Data
ClinVar Variation Id:
1528070
dbSNP Id:
rs2035149393
gnomAD v4:
14-75960980-G-A
MyVariant Identifiers:
chr14:g.76427323G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75960980G>A , CM000676.2:g.75960980G>A | GRCh38 |
| NC_000014.8:g.76427323G>A , CM000676.1:g.76427323G>A | GRCh37 |
| NC_000014.7:g.75497076G>A | NCBI36 |
| NG_011715.1:g.25770C>T , LRG_399:g.25770C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238682.8:c.1023C>T (TGFB3) MANE Select | ENSP00000238682.3:p.Ala341= | |
| ENST00000556674.2:c.1023C>T (TGFB3) | ENSP00000502685.1:p.Ala341= | |
| ENST00000238682.7:c.1023C>T (TGFB3) | ENSP00000238682.3:p.Ala341= | |
| ENST00000554980.5:n.1404C>T (TGFB3) | ||
| ENST00000555677.5:n.90-27905G>A (IFT43) | ||
| ENST00000557493.1:n.489C>T (TGFB3) | ||
| NM_003239.3:c.1023C>T (TGFB3) | NP_003230.1:p.Ala341= | |
| XM_005268028.1:c.1023C>T (TGFB3) | XP_005268085.1:p.Ala341= | |
| NM_001329939.1:c.1023C>T (TGFB3) | NP_001316868.1:p.Ala341= | |
| NM_003239.4:c.1023C>T (TGFB3) | NP_003230.1:p.Ala341= | |
| NM_001329939.2:c.1023C>T (TGFB3) | NP_001316868.1:p.Ala341= | |
| NM_003239.5:c.1023C>T (TGFB3) MANE Select | NP_003230.1:p.Ala341= |