gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00610792 (NFE)
Genomes Max Group AF
0.00439098 (NFE)
Exomes Max Group AF
0.00618949 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123686991C>G , CM000674.2:g.123686991C>G | GRCh38 |
| NC_000012.11:g.124171538C>G , CM000674.1:g.124171538C>G | GRCh37 |
| NC_000012.10:g.122737491C>G | NCBI36 |
| NG_030442.1:g.20879C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303372.7:c.720C>G MANE Select | ENSP00000304941.5:p.Pro240= | |
| ENST00000679504.1:c.717C>G | ENSP00000505006.1:p.Pro239= | |
| ENST00000680500.1:c.720C>G | ENSP00000506438.1:p.Pro240= | |
| ENST00000680574.1:c.720C>G | ENSP00000505356.1:p.Pro240= | |
| ENST00000303372.6:c.720C>G | ENSP00000304941.5:p.Pro240= | |
| ENST00000426174.6:c.717C>G | ENSP00000395171.2:p.Pro239= | |
| NM_001143850.2:c.717C>G | NP_001137322.1:p.Pro239= | |
| NM_024809.4:c.720C>G | NP_079085.2:p.Pro240= | |
| XM_005253623.2:c.720C>G | XP_005253680.1:p.Pro240= | |
| XM_006719605.2:c.720C>G | XP_006719668.1:p.Pro240= | |
| XM_011538748.1:c.-66C>G | XP_011537050.1:n.-66C>G | |
| XM_006719605.3:c.720C>G | XP_006719668.1:p.Pro240= | |
| XM_017019974.1:c.717C>G | XP_016875463.1:p.Pro239= | |
| XM_017019975.1:c.-66C>G | XP_016875464.1:n.-66C>G | |
| NM_024809.5:c.720C>G MANE Select | NP_079085.2:p.Pro240= | |
| NM_001143850.3:c.717C>G | NP_001137322.1:p.Pro239= |