Linked Data
ClinVar Variation Id:
2607847
ClinVar RCV Id:
RCV003345860
dbSNP Id:
rs766505330
ExAC:
10:103990440 G / A
gnomAD v2:
10-103990440-G-A
gnomAD v3:
10-102230683-G-A
gnomAD v4:
10-102230683-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102230683G>A , CM000672.2:g.102230683G>A | GRCh38 |
| NC_000010.10:g.103990440G>A , CM000672.1:g.103990440G>A | GRCh37 |
| NC_000010.9:g.103980430G>A | NCBI36 |
| NG_008147.1:g.15792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370002.8:c.740C>T (PITX3) MANE Select | ENSP00000359019.3:p.Ala247Val | |
| ENST00000370002.7:c.740C>T (PITX3) | ENSP00000359019.3:p.Ala247Val | |
| ENST00000539804.1:c.740C>T (PITX3) | ENSP00000439383.1:p.Ala247Val | |
| NM_005029.3:c.740C>T (PITX3) | NP_005020.1:p.Ala247Val | |
| XM_011539865.1:c.758C>T (PITX3) | XP_011538167.1:p.Ala253Val | |
| NM_005029.4:c.740C>T (PITX3) MANE Select | NP_005020.1:p.Ala247Val | |
| NM_001391923.1:c.-244G>A (GBF1) | NP_001378852.1:n.-244G>A | |
| NM_001391924.1:c.-382G>A (GBF1) | NP_001378853.1:n.-382G>A |