gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4785135 (NFE)
Genomes Max Group AF
0.4785135 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26484590T>C , CM000684.2:g.26484590T>C | GRCh38 |
| NC_000022.10:g.26880556T>C , CM000684.1:g.26880556T>C | GRCh37 |
| NC_000022.9:g.25210556T>C | NCBI36 |
| NG_009763.2:g.4274A>G , LRG_590:g.4274A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215917.11:c.209+491T>C MANE Select | ENSP00000215917.6:n.209+491T>C | |
| ENST00000613968.1:c.197+491T>C | ENSP00000482019.1:n.197+491T>C | |
| NM_001013694.2:c.209+491T>C | NP_001013716.2:n.209+491T>C | |
| XM_011530178.2:c.-51+491T>C | XP_011528480.1:n.-51+491T>C | |
| XM_017028799.2:c.209+491T>C | XP_016884288.1:n.209+491T>C | |
| NM_001013694.3:c.209+491T>C MANE Select | NP_001013716.2:n.209+491T>C |