gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018336 (NFE)
Genomes Max Group AF
0.00009048 (NFE)
Exomes Max Group AF
0.00018551 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36312199G>C , CM000684.2:g.36312199G>C | GRCh38 |
| NC_000022.10:g.36708244G>C , CM000684.1:g.36708244G>C | GRCh37 |
| NC_000022.9:g.35038190G>C | NCBI36 |
| NG_011884.2:g.80820C>G , LRG_567:g.80820C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685187.1:n.1792C>G | ||
| ENST00000685801.1:c.1578C>G | ENSP00000510688.1:p.Ala526= | |
| ENST00000691109.1:n.1873C>G | ||
| ENST00000691687.1:n.2376C>G | ||
| ENST00000692930.1:n.1792C>G | ||
| ENST00000216181.11:c.1578C>G MANE Select | ENSP00000216181.6:p.Ala526= | |
| ENST00000216181.9:c.1578C>G | ENSP00000216181.5:p.Ala526= | |
| NM_002473.5:c.1578C>G , LRG_567t1:c.1578C>G | NP_002464.1:p.Ala526= | |
| XM_011530197.1:c.1578C>G | XP_011528499.1:p.Ala526= | |
| XM_011530197.2:c.1578C>G | XP_011528499.1:p.Ala526= | |
| XM_017028803.1:c.1578C>G | XP_016884292.1:p.Ala526= | |
| XM_017028804.1:c.1578C>G | XP_016884293.1:p.Ala526= | |
| XM_017028805.1:c.1578C>G | XP_016884294.1:p.Ala526= | |
| XM_017028806.1:c.1578C>G | XP_016884295.1:p.Ala526= | |
| NM_002473.6:c.1578C>G MANE Select | NP_002464.1:p.Ala526= |