Linked Data
ClinVar Variation Id:
3015982
ClinVar RCV Id:
RCV003874069
dbSNP Id:
rs2070244293
gnomAD v3:
10-102231724-T-C
gnomAD v4:
10-102231724-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102231724T>C , CM000672.2:g.102231724T>C | GRCh38 |
| NC_000010.10:g.103991481T>C , CM000672.1:g.103991481T>C | GRCh37 |
| NC_000010.9:g.103981471T>C | NCBI36 |
| NG_008147.1:g.14751A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370002.8:c.185A>G (PITX3) MANE Select | ENSP00000359019.3:p.Gln62Arg | |
| ENST00000370002.7:c.185A>G (PITX3) | ENSP00000359019.3:p.Gln62Arg | |
| ENST00000539804.1:c.185A>G (PITX3) | ENSP00000439383.1:p.Gln62Arg | |
| NM_005029.3:c.185A>G (PITX3) | NP_005020.1:p.Gln62Arg | |
| XM_011539865.1:c.203A>G (PITX3) | XP_011538167.1:p.Gln68Arg | |
| NM_005029.4:c.185A>G (PITX3) MANE Select | NP_005020.1:p.Gln62Arg | |
| NM_001391923.1:c.-11+808T>C (GBF1) | NP_001378852.1:n.-11+808T>C | |
| NM_001391924.1:c.-149+808T>C (GBF1) | NP_001378853.1:n.-149+808T>C |