ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000502 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000382 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105386650G>C , CM000666.2:g.105386650G>C | GRCh38 |
| NC_000004.11:g.106307807G>C , CM000666.1:g.106307807G>C | GRCh37 |
| NC_000004.10:g.106527256G>C | NCBI36 |
| NG_053007.1:g.92421C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341695.10:c.870-14C>G MANE Select | ENSP00000343885.5:n.870-14C>G | |
| ENST00000341695.9:c.870-14C>G | ENSP00000343885.5:n.870-14C>G | |
| ENST00000348706.9:c.783-14C>G | ENSP00000313061.8:n.783-14C>G | |
| ENST00000351450.10:c.*592-14C>G | ENSP00000273977.9:n.*592-14C>G | |
| ENST00000354147.7:c.372-14C>G | ENSP00000340352.3:n.372-14C>G | |
| ENST00000432483.6:c.564-14C>G | ENSP00000389957.2:n.564-14C>G | |
| ENST00000503171.5:n.562-14C>G | ||
| ENST00000509031.5:c.*629-14C>G | ENSP00000423467.1:n.*629-14C>G | |
| ENST00000513605.5:n.687-14C>G | ||
| ENST00000515567.5:c.143-15777C>G | ||
| NM_006903.4:c.783-14C>G | NP_008834.3:n.783-14C>G | |
| NM_176866.2:c.564-14C>G | NP_789842.2:n.564-14C>G | |
| NM_176867.3:c.372-14C>G | NP_789843.2:n.372-14C>G | |
| NM_176869.2:c.870-14C>G | NP_789845.1:n.870-14C>G | |
| NM_176869.3:c.870-14C>G MANE Select | NP_789845.1:n.870-14C>G |