gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002552 (AFR)
Genomes Max Group AF
0.00003254 (AFR)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48939763G>A , CM000674.2:g.48939763G>A | GRCh38 |
| NC_000012.11:g.49333546G>A , CM000674.1:g.49333546G>A | GRCh37 |
| NC_000012.10:g.47619813G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256682.9:c.276C>T MANE Select | ENSP00000256682.4:p.Val92= | |
| ENST00000256682.8:c.276C>T | ENSP00000256682.4:p.Val92= | |
| ENST00000398092.4:c.276C>T | ENSP00000438507.1:p.Val92= | |
| ENST00000447318.6:c.165C>T | ENSP00000395370.2:p.Val55= | |
| ENST00000485410.5:n.137-916C>T | ||
| ENST00000541236.5:c.276C>T | ENSP00000438063.1:p.Val92= | |
| ENST00000541959.5:c.276C>T | ENSP00000438510.1:p.Val92= | |
| NM_001659.2:c.276C>T | NP_001650.1:p.Val92= | |
| XM_005268856.1:c.276C>T | XP_005268913.1:p.Val92= | |
| XM_006719391.2:c.276C>T | XP_006719454.1:p.Val92= | |
| XM_011538322.1:c.276C>T | XP_011536624.1:p.Val92= | |
| XM_011538323.1:c.276C>T | XP_011536625.1:p.Val92= | |
| XM_006719391.4:c.276C>T | XP_006719454.1:p.Val92= | |
| XM_024448972.1:c.276C>T | XP_024304740.1:p.Val92= | |
| NM_001659.3:c.276C>T MANE Select | NP_001650.1:p.Val92= |