gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05548325 (AFR)
Genomes Max Group AF
0.05273183 (AFR)
Exomes Max Group AF
0.05758978 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34489358A>G , CM000671.2:g.34489358A>G | GRCh38 |
| NC_000009.11:g.34489356A>G , CM000671.1:g.34489356A>G | GRCh37 |
| NC_000009.10:g.34479356A>G | NCBI36 |
| NG_008127.1:g.35546A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.297A>G MANE Select | ENSP00000242317.4:p.Gln99= | |
| ENST00000242317.8:c.297A>G | ENSP00000242317.4:p.Gln99= | |
| ENST00000437363.5:c.264A>G | ENSP00000395396.1:p.Gln88= | |
| ENST00000488369.1:n.413A>G | ||
| ENST00000614641.4:c.297A>G | ENSP00000480538.1:p.Gln99= | |
| NM_001281428.1:c.297A>G | NP_001268357.1:p.Gln99= | |
| NM_012144.3:c.297A>G | NP_036276.1:p.Gln99= | |
| XM_011517846.1:c.297A>G | XP_011516148.1:p.Gln99= | |
| XM_011517847.1:c.297A>G | XP_011516149.1:p.Gln99= | |
| XM_011517848.1:c.297A>G | XP_011516150.1:p.Gln99= | |
| XM_011517849.1:c.297A>G | XP_011516151.1:p.Gln99= | |
| XM_011517850.1:c.297A>G | XP_011516152.1:p.Gln99= | |
| XR_929232.1:n.551A>G | ||
| XR_929233.1:n.551A>G | ||
| XR_929235.1:n.551A>G | ||
| XM_006716758.3:c.-180A>G | XP_006716821.1:n.-180A>G | |
| XM_011517846.2:c.297A>G | XP_011516148.1:p.Gln99= | |
| XM_011517847.3:c.297A>G | XP_011516149.1:p.Gln99= | |
| XM_011517848.2:c.297A>G | XP_011516150.1:p.Gln99= | |
| XM_011517849.2:c.297A>G | XP_011516151.1:p.Gln99= | |
| XM_011517850.3:c.297A>G | XP_011516152.1:p.Gln99= | |
| XM_017014625.2:c.297A>G | XP_016870114.1:p.Gln99= | |
| XR_002956774.1:n.498A>G | ||
| XR_929232.2:n.498A>G | ||
| XR_929233.2:n.498A>G | ||
| NM_012144.4:c.297A>G MANE Select | NP_036276.1:p.Gln99= | |
| NM_001281428.2:c.297A>G | NP_001268357.1:p.Gln99= |