Linked Data
ClinVar Variation Id:
6938
ClinVar RCV Id:
RCV000007351
dbSNP Id:
rs104894175
ExAC:
10:103991800 C / T
gnomAD v2:
10-103991800-C-T
gnomAD v4:
10-102232043-C-T
PubMed:
PMID:9620774
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102232043C>T , CM000672.2:g.102232043C>T | GRCh38 |
| NC_000010.10:g.103991800C>T , CM000672.1:g.103991800C>T | GRCh37 |
| NC_000010.9:g.103981790C>T | NCBI36 |
| NG_008147.1:g.14432G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370002.8:c.38G>A (PITX3) MANE Select | ENSP00000359019.3:p.Ser13Asn | |
| ENST00000370002.7:c.38G>A (PITX3) | ENSP00000359019.3:p.Ser13Asn | |
| ENST00000539804.1:c.38G>A (PITX3) | ENSP00000439383.1:p.Ser13Asn | |
| NM_005029.3:c.38G>A (PITX3) | NP_005020.1:p.Ser13Asn | |
| XM_011539865.1:c.56G>A (PITX3) | XP_011538167.1:p.Ser19Asn | |
| NM_005029.4:c.38G>A (PITX3) MANE Select | NP_005020.1:p.Ser13Asn | |
| NM_001391923.1:c.-11+1127C>T (GBF1) | NP_001378852.1:n.-11+1127C>T | |
| NM_001391924.1:c.-149+1127C>T (GBF1) | NP_001378853.1:n.-149+1127C>T |