gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942350G>C , CM000678.2:g.67942350G>C | GRCh38 |
| NC_000016.9:g.67976253G>C , CM000678.1:g.67976253G>C | GRCh37 |
| NC_000016.8:g.66533754G>C | NCBI36 |
| NG_009778.1:g.6763C>G | |
| NG_033098.1:g.31345C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.748+13C>G MANE Select | ENSP00000264005.5:n.748+13C>G | |
| ENST00000264005.9:c.748+13C>G | ENSP00000264005.5:n.748+13C>G | |
| ENST00000570369.5:c.155+511C>G | ||
| ENST00000570396.1:c.96+13C>G | ENSP00000459291.1:n.96+13C>G | |
| ENST00000570980.1:c.532+13C>G | ENSP00000464651.1:n.532+13C>G | |
| ENST00000573538.5:c.391+13C>G | ENSP00000463220.1:n.391+13C>G | |
| ENST00000573846.1:n.375C>G | ||
| ENST00000575467.5:c.*443+13C>G | ENSP00000460653.1:n.*443+13C>G | |
| ENST00000576450.1:c.215+13C>G | ||
| NM_000229.1:c.748+13C>G | NP_000220.1:n.748+13C>G | |
| NM_000229.2:c.748+13C>G MANE Select | NP_000220.1:n.748+13C>G |