Linked Data
ClinVar Variation Id:
1301674
ClinVar RCV Id:
RCV001733623
dbSNP Id:
rs2133799119
gnomAD v4:
10-102231993-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102231993C>T , CM000672.2:g.102231993C>T | GRCh38 |
| NC_000010.10:g.103991750C>T , CM000672.1:g.103991750C>T | GRCh37 |
| NC_000010.9:g.103981740C>T | NCBI36 |
| NG_008147.1:g.14482G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370002.8:c.88G>A (PITX3) MANE Select | ENSP00000359019.3:p.Glu30Lys | |
| ENST00000370002.7:c.88G>A (PITX3) | ENSP00000359019.3:p.Glu30Lys | |
| ENST00000539804.1:c.88G>A (PITX3) | ENSP00000439383.1:p.Glu30Lys | |
| NM_005029.3:c.88G>A (PITX3) | NP_005020.1:p.Glu30Lys | |
| XM_011539865.1:c.106G>A (PITX3) | XP_011538167.1:p.Glu36Lys | |
| NM_005029.4:c.88G>A (PITX3) MANE Select | NP_005020.1:p.Glu30Lys | |
| NM_001391923.1:c.-11+1077C>T (GBF1) | NP_001378852.1:n.-11+1077C>T | |
| NM_001391924.1:c.-149+1077C>T (GBF1) | NP_001378853.1:n.-149+1077C>T |