gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003236 (AMR)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489352A>T , CM000671.2:g.130489352A>T | GRCh38 |
| NC_000009.11:g.133364739A>T , CM000671.1:g.133364739A>T | GRCh37 |
| NC_000009.10:g.132354560A>T | NCBI36 |
| NG_011542.1:g.49646A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.858A>T MANE Select | ENSP00000253004.6:p.Ala286= | |
| ENST00000352480.9:c.858A>T | ENSP00000253004.6:p.Ala286= | |
| ENST00000372386.6:n.129A>T | ||
| ENST00000372393.7:c.858A>T | ENSP00000361469.2:p.Ala286= | |
| ENST00000372394.5:c.858A>T | ENSP00000361471.1:p.Ala286= | |
| ENST00000470849.4:n.583A>T | ||
| ENST00000492400.5:n.367A>T | ||
| ENST00000493984.6:n.635A>T | ||
| NM_000050.4:c.858A>T | NP_000041.2:p.Ala286= | |
| NM_054012.3:c.858A>T | NP_446464.1:p.Ala286= | |
| XM_005272200.2:c.858A>T | XP_005272257.1:p.Ala286= | |
| XM_011518705.1:c.972A>T | XP_011517007.1:p.Ala324= | |
| XM_005272200.3:c.858A>T | XP_005272257.1:p.Ala286= | |
| XM_011518705.2:c.972A>T | XP_011517007.1:p.Ala324= | |
| XM_017014729.1:c.954A>T | XP_016870218.1:p.Ala318= | |
| NM_054012.4:c.858A>T MANE Select | NP_446464.1:p.Ala286= |