Linked Data
ClinVar Variation Id:
2434868
ClinVar RCV Id:
RCV003134928
dbSNP Id:
rs568555694
ExAC:
10:103991485 T / G
gnomAD v2:
10-103991485-T-G
gnomAD v3:
10-102231728-T-G
gnomAD v4:
10-102231728-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102231728T>G , CM000672.2:g.102231728T>G | GRCh38 |
| NC_000010.10:g.103991485T>G , CM000672.1:g.103991485T>G | GRCh37 |
| NC_000010.9:g.103981475T>G | NCBI36 |
| NG_008147.1:g.14747A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370002.8:c.181A>C (PITX3) MANE Select | ENSP00000359019.3:p.Lys61Gln | |
| ENST00000370002.7:c.181A>C (PITX3) | ENSP00000359019.3:p.Lys61Gln | |
| ENST00000539804.1:c.181A>C (PITX3) | ENSP00000439383.1:p.Lys61Gln | |
| NM_005029.3:c.181A>C (PITX3) | NP_005020.1:p.Lys61Gln | |
| XM_011539865.1:c.199A>C (PITX3) | XP_011538167.1:p.Lys67Gln | |
| NM_005029.4:c.181A>C (PITX3) MANE Select | NP_005020.1:p.Lys61Gln | |
| NM_001391923.1:c.-11+812T>G (GBF1) | NP_001378852.1:n.-11+812T>G | |
| NM_001391924.1:c.-149+812T>G (GBF1) | NP_001378853.1:n.-149+812T>G |