gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99832874 (NFE)
Genomes Max Group AF
0.9932918 (NFE)
Exomes Max Group AF
0.99829841 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16178813T>C , CM000678.2:g.16178813T>C | GRCh38 |
| NC_000016.9:g.16272670T>C , CM000678.1:g.16272670T>C | GRCh37 |
| NC_000016.8:g.16180171T>C | NCBI36 |
| NG_007558.3:g.49805A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2400A>G | ENSP00000483331.2:p.Gly800= | |
| ENST00000205557.12:c.2400A>G MANE Select | ENSP00000205557.7:p.Gly800= | |
| ENST00000205557.11:c.2400A>G | ENSP00000205557.7:p.Gly800= | |
| ENST00000456970.6:c.2400A>G | ENSP00000405002.2:p.Gly800= | |
| ENST00000622290.4:c.2400A>G | ENSP00000483331.1:p.Gly800= | |
| XM_011522479.1:c.2382+18A>G | XP_011520781.1:n.2382+18A>G | |
| XM_011522480.1:c.2058A>G | XP_011520782.1:p.Gly686= | |
| XM_011522481.1:c.2058A>G | XP_011520783.1:p.Gly686= | |
| XM_011522482.1:c.2400A>G | XP_011520784.1:p.Gly800= | |
| XR_932836.1:n.2635A>G | ||
| XR_932837.1:n.2636A>G | ||
| XR_932838.1:n.2636A>G | ||
| XM_011522479.2:c.2382+18A>G | XP_011520781.1:n.2382+18A>G | |
| XM_011522481.3:c.2058A>G | XP_011520783.1:p.Gly686= | |
| XM_011522482.3:c.2400A>G | XP_011520784.1:p.Gly800= | |
| XM_017023212.1:c.2248-1187A>G | XP_016878701.1:n.2248-1187A>G | |
| XM_017023214.1:c.2400A>G | XP_016878703.1:p.Gly800= | |
| XM_024450261.1:c.2436A>G | XP_024306029.1:p.Gly812= | |
| XR_932836.2:n.2581A>G | ||
| XR_932837.3:n.2581A>G | ||
| XR_932838.3:n.2581A>G | ||
| NM_001171.6:c.2400A>G MANE Select | NP_001162.5:p.Gly800= |