ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00491036 (EAS)
Genomes Max Group AF
0.00419695 (EAS)
Exomes Max Group AF
0.00480388 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32346044G>C , CM000685.2:g.32346044G>C | GRCh38 |
| NC_000023.10:g.32364161G>C , CM000685.1:g.32364161G>C | GRCh37 |
| NC_000023.9:g.32274082G>C | NCBI36 |
| NG_012232.1:g.998566C>G , LRG_199:g.998566C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.331C>G | ENSP00000350765.3:p.Gln111Glu | |
| ENST00000357033.9:c.5485C>G MANE Select | ENSP00000354923.3:p.Gln1829Glu | |
| ENST00000619831.5:c.1453C>G | ENSP00000479270.2:p.Gln485Glu | |
| ENST00000357033.8:c.5485C>G | ENSP00000354923.3:p.Gln1829Glu | |
| ENST00000378677.6:c.5473C>G | ENSP00000367948.2:p.Gln1825Glu | |
| ENST00000488902.5:n.336-128981C>G | ||
| ENST00000493412.1:c.142C>G | ENSP00000417725.1:p.Gln48Glu | |
| ENST00000619831.4:c.5473C>G | ENSP00000479270.1:p.Gln1825Glu | |
| ENST00000620040.4:c.5485C>G | ENSP00000478150.1:p.Gln1829Glu | |
| NM_000109.3:c.5461C>G | NP_000100.2:p.Gln1821Glu | |
| NM_004006.2:c.5485C>G , LRG_199t1:c.5485C>G | NP_003997.1:p.Gln1829Glu | |
| NM_004009.3:c.5473C>G | NP_004000.1:p.Gln1825Glu | |
| NM_004010.3:c.5116C>G | NP_004001.1:p.Gln1706Glu | |
| NM_004011.3:c.1462C>G | NP_004002.2:p.Gln488Glu | |
| NM_004012.3:c.1453C>G | NP_004003.1:p.Gln485Glu | |
| XM_006724468.2:c.5485C>G | XP_006724531.1:p.Gln1829Glu | |
| XM_006724469.2:c.5461C>G | XP_006724532.1:p.Gln1821Glu | |
| XM_006724470.2:c.5485C>G | XP_006724533.1:p.Gln1829Glu | |
| XM_006724471.2:c.5485C>G | XP_006724534.1:p.Gln1829Glu | |
| XM_006724472.2:c.5356C>G | XP_006724535.1:p.Gln1786Glu | |
| XM_006724473.2:c.5448+2362C>G | XP_006724536.1:n.5448+2362C>G | |
| XM_006724474.2:c.5485C>G | XP_006724537.1:p.Gln1829Glu | |
| XM_006724475.2:c.5485C>G | XP_006724538.1:p.Gln1829Glu | |
| XM_011545467.1:c.5362C>G | XP_011543769.1:p.Gln1788Glu | |
| XM_011545468.1:c.5485C>G | XP_011543770.1:p.Gln1829Glu | |
| XM_011545469.1:c.5485C>G | XP_011543771.1:p.Gln1829Glu | |
| XM_006724469.3:c.5461C>G | XP_006724532.1:p.Gln1821Glu | |
| XM_006724470.3:c.5485C>G | XP_006724533.1:p.Gln1829Glu | |
| XM_006724474.3:c.5485C>G | XP_006724537.1:p.Gln1829Glu | |
| XM_011545468.2:c.5485C>G | XP_011543770.1:p.Gln1829Glu | |
| XM_017029328.1:c.5485C>G | XP_016884817.1:p.Gln1829Glu | |
| XM_017029329.1:c.5485C>G | XP_016884818.1:p.Gln1829Glu | |
| XM_017029330.2:c.5485C>G | XP_016884819.1:p.Gln1829Glu | |
| NM_000109.4:c.5461C>G | NP_000100.3:p.Gln1821Glu | |
| NM_004006.3:c.5485C>G MANE Select | NP_003997.2:p.Gln1829Glu | |
| NM_004011.4:c.1462C>G | NP_004002.3:p.Gln488Glu | |
| NM_004012.4:c.1453C>G | NP_004003.2:p.Gln485Glu |