gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70215183 (SAS)
Genomes Max Group AF
0.70215183 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.37270652A>G , CM000672.2:g.37270652A>G | GRCh38 |
| NC_000010.10:g.37559580A>G , CM000672.1:g.37559580A>G | GRCh37 |
| NC_000010.9:g.37599586A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000602533.6:c.*280+38085A>G (ANKRD30A) | ENSP00000473551.2:n.*280+38085A>G | |
| ENST00000420453.1:n.350+6015A>G (ATP8A2P1) | ||
| ENST00000602533.5:c.*280+38085A>G (ANKRD30A) | ENSP00000473551.1:n.*280+38085A>G | |
| XR_002957039.1:n.8344+6015A>G (ANKRD30A) | ||
| XR_002957040.1:n.8147+6015A>G (ANKRD30A) | ||
| XR_002957041.1:n.8070+6015A>G (ANKRD30A) | ||
| XR_002957042.1:n.8184+6015A>G (ANKRD30A) | ||
| XR_002957043.1:n.8022+6015A>G (ANKRD30A) | ||
| XR_002957044.1:n.8246+6015A>G (ANKRD30A) | ||
| XR_002957045.1:n.8184+6015A>G (ANKRD30A) | ||
| XR_002957046.1:n.7717+6015A>G (ANKRD30A) | ||
| XR_002957047.1:n.7866+6015A>G (ANKRD30A) | ||
| XR_002957048.1:n.7532+6015A>G (ANKRD30A) |