gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45619745 (EAS)
Genomes Max Group AF
0.45619745 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71983532G>C , CM000674.2:g.71983532G>C | GRCh38 |
| NC_000012.11:g.72377312G>C , CM000674.1:g.72377312G>C | GRCh37 |
| NC_000012.10:g.70663579G>C | NCBI36 |
| NG_008279.1:g.49687G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.941+4445G>C MANE Select | ENSP00000329093.3:n.941+4445G>C | |
| ENST00000333850.3:c.941+4445G>C | ENSP00000329093.3:n.941+4445G>C | |
| NM_173353.3:c.941+4445G>C | NP_775489.2:n.941+4445G>C | |
| XM_011537899.1:c.347+4445G>C | XP_011536201.1:n.347+4445G>C | |
| NM_173353.4:c.941+4445G>C MANE Select | NP_775489.2:n.941+4445G>C |