gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001305 (NFE)
Exomes Max Group AF
0.00001302 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94019581C>T , CM000663.2:g.94019581C>T | GRCh38 |
| NC_000001.10:g.94485137C>T , CM000663.1:g.94485137C>T | GRCh37 |
| NC_000001.9:g.94257725C>T | NCBI36 |
| NG_009073.1:g.106569G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5196+1G>A MANE Select | ENSP00000359245.3:n.5196+1G>A | |
| ENST00000370225.3:c.5196+1G>A | ENSP00000359245.3:n.5196+1G>A | |
| ENST00000470771.1:n.307G>A | ||
| ENST00000536513.5:c.1572+1G>A | ENSP00000439707.2:n.1572+1G>A | |
| NM_000350.2:c.5196+1G>A | NP_000341.2:n.5196+1G>A | |
| NM_000350.3:c.5196+1G>A MANE Select | NP_000341.2:n.5196+1G>A |