gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30940019T>C , CM000684.2:g.30940019T>C | GRCh38 |
| NC_000022.10:g.31336006T>C , CM000684.1:g.31336006T>C | GRCh37 |
| NC_000022.9:g.29666006T>C | NCBI36 |
| NG_046752.1:g.33479A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397641.8:c.927A>G MANE Select | ENSP00000380763.2:p.Ala309= | |
| ENST00000674576.1:n.706A>G | ||
| ENST00000675601.1:n.769A>G | ||
| ENST00000676215.1:n.103A>G | ||
| ENST00000215862.8:c.741A>G | ENSP00000215862.4:p.Ala247= | |
| ENST00000397641.7:c.927A>G | ENSP00000380763.2:p.Ala309= | |
| ENST00000469915.1:n.458+739A>G | ||
| NM_001303256.1:c.927A>G | NP_001290185.1:p.Ala309= | |
| NM_001303257.1:c.927A>G | NP_001290186.1:p.Ala309= | |
| NM_014941.2:c.741A>G | NP_055756.1:p.Ala247= | |
| XM_011530003.1:c.951A>G | XP_011528305.1:p.Ala317= | |
| XM_011530004.1:c.942A>G | XP_011528306.1:p.Ala314= | |
| XM_011530005.1:c.951A>G | XP_011528307.1:p.Ala317= | |
| XM_011530006.1:c.792A>G | XP_011528308.1:p.Ala264= | |
| NM_001303256.2:c.927A>G | NP_001290185.1:p.Ala309= | |
| NM_001303257.2:c.927A>G | NP_001290186.1:p.Ala309= | |
| NM_014941.3:c.741A>G | NP_055756.1:p.Ala247= | |
| XM_011530004.2:c.942A>G | XP_011528306.1:p.Ala314= | |
| XM_017028667.2:c.942A>G | XP_016884156.1:p.Ala314= | |
| NM_001303256.3:c.927A>G MANE Select | NP_001290185.1:p.Ala309= |