Linked Data
ClinVar Variation Id:
2146233
ClinVar RCV Id:
RCV003074459
dbSNP Id:
rs753038718
ExAC:
10:103991804 G / C
gnomAD v2:
10-103991804-G-C
gnomAD v3:
10-102232047-G-C
gnomAD v4:
10-102232047-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102232047G>C , CM000672.2:g.102232047G>C | GRCh38 |
| NC_000010.10:g.103991804G>C , CM000672.1:g.103991804G>C | GRCh37 |
| NC_000010.9:g.103981794G>C | NCBI36 |
| NG_008147.1:g.14428C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370002.8:c.34C>G (PITX3) MANE Select | ENSP00000359019.3:p.Arg12Gly | |
| ENST00000370002.7:c.34C>G (PITX3) | ENSP00000359019.3:p.Arg12Gly | |
| ENST00000539804.1:c.34C>G (PITX3) | ENSP00000439383.1:p.Arg12Gly | |
| NM_005029.3:c.34C>G (PITX3) | NP_005020.1:p.Arg12Gly | |
| XM_011539865.1:c.52C>G (PITX3) | XP_011538167.1:p.Arg18Gly | |
| NM_005029.4:c.34C>G (PITX3) MANE Select | NP_005020.1:p.Arg12Gly | |
| NM_001391923.1:c.-11+1131G>C (GBF1) | NP_001378852.1:n.-11+1131G>C | |
| NM_001391924.1:c.-149+1131G>C (GBF1) | NP_001378853.1:n.-149+1131G>C |