Linked Data
ClinVar Variation Id:
2162942
ClinVar RCV Id:
RCV003091531
MyVariant Identifiers:
chr10:g.103990409C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102230652C>T , CM000672.2:g.102230652C>T | GRCh38 |
| NC_000010.10:g.103990409C>T , CM000672.1:g.103990409C>T | GRCh37 |
| NC_000010.9:g.103980399C>T | NCBI36 |
| NG_008147.1:g.15823G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370002.8:c.771G>A (PITX3) MANE Select | ENSP00000359019.3:p.Arg257= | |
| ENST00000370002.7:c.771G>A (PITX3) | ENSP00000359019.3:p.Arg257= | |
| ENST00000539804.1:c.771G>A (PITX3) | ENSP00000439383.1:p.Arg257= | |
| NM_005029.3:c.771G>A (PITX3) | NP_005020.1:p.Arg257= | |
| XM_011539865.1:c.789G>A (PITX3) | XP_011538167.1:p.Arg263= | |
| NM_005029.4:c.771G>A (PITX3) MANE Select | NP_005020.1:p.Arg257= | |
| NM_001391923.1:c.-275C>T (GBF1) | NP_001378852.1:n.-275C>T | |
| NM_001391924.1:c.-413C>T (GBF1) | NP_001378853.1:n.-413C>T |