Linked Data
ClinVar Variation Id:
283807
ClinVar RCV Id:
RCV000329890
dbSNP Id:
rs367562631
ExAC:
10:103991796 A / G
gnomAD v2:
10-103991796-A-G
gnomAD v3:
10-102232039-A-G
gnomAD v4:
10-102232039-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102232039A>G , CM000672.2:g.102232039A>G | GRCh38 |
| NC_000010.10:g.103991796A>G , CM000672.1:g.103991796A>G | GRCh37 |
| NC_000010.9:g.103981786A>G | NCBI36 |
| NG_008147.1:g.14436T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370002.8:c.42T>C (PITX3) MANE Select | ENSP00000359019.3:p.Pro14= | |
| ENST00000370002.7:c.42T>C (PITX3) | ENSP00000359019.3:p.Pro14= | |
| ENST00000539804.1:c.42T>C (PITX3) | ENSP00000439383.1:p.Pro14= | |
| NM_005029.3:c.42T>C (PITX3) | NP_005020.1:p.Pro14= | |
| XM_011539865.1:c.60T>C (PITX3) | XP_011538167.1:p.Pro20= | |
| NM_005029.4:c.42T>C (PITX3) MANE Select | NP_005020.1:p.Pro14= | |
| NM_001391923.1:c.-11+1123A>G (GBF1) | NP_001378852.1:n.-11+1123A>G | |
| NM_001391924.1:c.-149+1123A>G (GBF1) | NP_001378853.1:n.-149+1123A>G |