gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001973 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.1342438G>C , CM000672.2:g.1342438G>C | GRCh38 |
| NC_000010.10:g.1384633G>C , CM000672.1:g.1384633G>C | GRCh37 |
| NC_000010.9:g.1374633G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381312.6:c.1077+20590C>G MANE Select | ENSP00000370713.1:n.1077+20590C>G | |
| ENST00000381312.5:c.1077+20590C>G | ENSP00000370713.1:n.1077+20590C>G | |
| NM_018702.3:c.1077+20590C>G | NP_061172.1:n.1077+20590C>G | |
| XR_930468.1:n.1425+20590C>G | ||
| NM_018702.4:c.1077+20590C>G MANE Select | NP_061172.1:n.1077+20590C>G |