gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00066682 (NFE)
Genomes Max Group AF
0.00036788 (NFE)
Exomes Max Group AF
0.0006779 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94011395A>G , CM000663.2:g.94011395A>G | GRCh38 |
| NC_000001.10:g.94476951A>G , CM000663.1:g.94476951A>G | GRCh37 |
| NC_000001.9:g.94249539A>G | NCBI36 |
| NG_009073.1:g.114755T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5461-10T>C MANE Select | ENSP00000359245.3:n.5461-10T>C | |
| ENST00000370225.3:c.5461-10T>C | ENSP00000359245.3:n.5461-10T>C | |
| ENST00000536513.5:c.1837-10T>C | ENSP00000439707.2:n.1837-10T>C | |
| NM_000350.2:c.5461-10T>C | NP_000341.2:n.5461-10T>C | |
| NM_000350.3:c.5461-10T>C MANE Select | NP_000341.2:n.5461-10T>C |