dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102238914A>G , CM000672.2:g.102238914A>G | GRCh38 |
| NC_000010.10:g.103998671A>G , CM000672.1:g.103998671A>G | GRCh37 |
| NC_000010.9:g.103988661A>G | NCBI36 |
| NG_008147.1:g.7561T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370002.8:c.-13+2419T>C (PITX3) MANE Select | ENSP00000359019.3:n.-13+2419T>C | |
| ENST00000370002.7:c.-13+2419T>C (PITX3) | ENSP00000359019.3:n.-13+2419T>C | |
| NM_005029.3:c.-13+2419T>C (PITX3) | NP_005020.1:n.-13+2419T>C | |
| NM_005029.4:c.-13+2419T>C (PITX3) MANE Select | NP_005020.1:n.-13+2419T>C | |
| NM_001391923.1:c.-11+7998A>G (GBF1) | NP_001378852.1:n.-11+7998A>G | |
| NM_001391924.1:c.-148-6730A>G (GBF1) | NP_001378853.1:n.-148-6730A>G |