gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00244683 (NFE)
Genomes Max Group AF
0.00198937 (NFE)
Exomes Max Group AF
0.00245927 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48342724C>G , CM000675.2:g.48342724C>G | GRCh38 |
| NC_000013.10:g.48916860C>G , CM000675.1:g.48916860C>G | GRCh37 |
| NC_000013.9:g.47814861C>G | NCBI36 |
| NG_009009.1:g.43978C>G , LRG_517:g.43978C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.380+10C>G MANE Select | ENSP00000267163.4:n.380+10C>G | |
| ENST00000650461.1:c.380+10C>G | ENSP00000497193.1:n.380+10C>G | |
| ENST00000267163.4:c.380+10C>G | ENSP00000267163.4:n.380+10C>G | |
| ENST00000467505.5:c.138-17293C>G | ENSP00000434702.1:n.138-17293C>G | |
| ENST00000525036.1:n.542+10C>G | ||
| NM_000321.2:c.380+10C>G , LRG_517t1:c.380+10C>G | NP_000312.2:n.380+10C>G | |
| XM_011535171.1:c.119+10C>G | XP_011533473.1:n.119+10C>G | |
| XM_011535171.2:c.119+10C>G | XP_011533473.1:n.119+10C>G | |
| NM_000321.3:c.380+10C>G MANE Select | NP_000312.2:n.380+10C>G |