Linked Data
ClinVar Variation Id:
468251
ClinVar RCV Id:
RCV001363185
dbSNP Id:
rs1554934124
gnomAD v4:
10-102231009-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102231009C>A , CM000672.2:g.102231009C>A | GRCh38 |
| NC_000010.10:g.103990766C>A , CM000672.1:g.103990766C>A | GRCh37 |
| NC_000010.9:g.103980756C>A | NCBI36 |
| NG_008147.1:g.15466G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370002.8:c.414G>T (PITX3) MANE Select | ENSP00000359019.3:p.Gly138= | |
| ENST00000370002.7:c.414G>T (PITX3) | ENSP00000359019.3:p.Gly138= | |
| ENST00000539804.1:c.414G>T (PITX3) | ENSP00000439383.1:p.Gly138= | |
| NM_005029.3:c.414G>T (PITX3) | NP_005020.1:p.Gly138= | |
| XM_011539865.1:c.432G>T (PITX3) | XP_011538167.1:p.Gly144= | |
| NM_005029.4:c.414G>T (PITX3) MANE Select | NP_005020.1:p.Gly138= | |
| NM_001391923.1:c.-11+93C>A (GBF1) | NP_001378852.1:n.-11+93C>A | |
| NM_001391924.1:c.-149+93C>A (GBF1) | NP_001378853.1:n.-149+93C>A |