gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76677542 (AFR)
Genomes Max Group AF
0.76150304 (AFR)
Exomes Max Group AF
0.76845001 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74636560C>T , CM000678.2:g.74636560C>T | GRCh38 |
| NC_000016.9:g.74670458C>T , CM000678.1:g.74670458C>T | GRCh37 |
| NC_000016.8:g.73227959C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361070.9:c.1212G>A MANE Select | ENSP00000354361.4:p.Thr404= | |
| ENST00000361070.8:c.1212G>A | ENSP00000354361.4:p.Thr404= | |
| ENST00000571750.5:c.1212G>A | ENSP00000460049.1:p.Thr404= | |
| NM_018124.3:c.1212G>A | NP_060594.3:p.Thr404= | |
| XM_005256021.3:c.1212G>A | XP_005256078.1:p.Thr404= | |
| XM_005256022.3:c.1212G>A | XP_005256079.1:p.Thr404= | |
| XM_006721228.2:c.1212G>A | XP_006721291.1:p.Thr404= | |
| XM_011523191.1:c.1212G>A | XP_011521493.1:p.Thr404= | |
| XM_005256021.4:c.1212G>A | XP_005256078.1:p.Thr404= | |
| XM_005256022.4:c.1212G>A | XP_005256079.1:p.Thr404= | |
| XM_006721228.3:c.1212G>A | XP_006721291.1:p.Thr404= | |
| XM_011523191.3:c.1212G>A | XP_011521493.1:p.Thr404= | |
| XM_017023391.1:c.1212G>A | XP_016878880.1:p.Thr404= | |
| XM_017023392.1:c.1212G>A | XP_016878881.1:p.Thr404= | |
| NM_018124.4:c.1212G>A MANE Select | NP_060594.3:p.Thr404= | |
| NM_001370534.1:c.1212G>A | NP_001357463.1:p.Thr404= | |
| NM_001370535.1:c.1212G>A | NP_001357464.1:p.Thr404= | |
| NM_001370536.1:c.1212G>A | NP_001357465.1:p.Thr404= | |
| NM_001370537.1:c.378G>A | NP_001357466.1:p.Thr126= | |
| NM_001370539.1:c.378G>A | NP_001357468.1:p.Thr126= | |
| NM_001370540.1:c.378G>A | NP_001357469.1:p.Thr126= | |
| NM_001370542.1:c.378G>A | NP_001357471.1:p.Thr126= | |
| NM_001370543.1:c.378G>A | NP_001357472.1:p.Thr126= |