gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04149322 (AFR)
Genomes Max Group AF
0.03905002 (AFR)
Exomes Max Group AF
0.0433922 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42757885G>A , CM000663.2:g.42757885G>A | GRCh38 |
| NC_000001.10:g.43223556G>A , CM000663.1:g.43223556G>A | GRCh37 |
| NC_000001.9:g.42996143G>A | NCBI36 |
| NG_008123.1:g.14200C>T , LRG_5:g.14200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296388.10:c.978C>T MANE Select | ENSP00000296388.5:p.Thr326= | |
| ENST00000236040.8:c.978C>T | ENSP00000236040.4:p.Thr326= | |
| ENST00000296388.9:c.978C>T | ENSP00000296388.5:p.Thr326= | |
| ENST00000397054.7:c.978C>T | ENSP00000380245.3:p.Thr326= | |
| ENST00000460031.5:n.996C>T | ||
| ENST00000463465.1:n.467C>T | ||
| ENST00000495874.5:n.1029C>T | ||
| NM_001146289.1:c.978C>T , LRG_5t2:c.978C>T | NP_001139761.1:p.Thr326= | |
| NM_001243246.1:c.978C>T , LRG_5t3:c.978C>T | NP_001230175.1:p.Thr326= | |
| NM_022356.3:c.978C>T , LRG_5t1:c.978C>T | NP_071751.3:p.Thr326= | |
| XM_005271110.2:c.-31C>T | XP_005271167.1:n.-31C>T | |
| XM_011541947.1:c.-53C>T | XP_011540249.1:n.-53C>T | |
| XM_011541948.1:c.-53C>T | XP_011540250.1:n.-53C>T | |
| XM_011541949.1:c.-53C>T | XP_011540251.1:n.-53C>T | |
| XR_946739.1:n.1035C>T | ||
| XM_017002051.2:c.-53C>T | XP_016857540.1:n.-53C>T | |
| XM_017002052.2:c.-53C>T | XP_016857541.1:n.-53C>T | |
| XR_946739.2:n.1035C>T | ||
| NM_022356.4:c.978C>T MANE Select | NP_071751.3:p.Thr326= | |
| NM_001146289.2:c.978C>T | NP_001139761.1:p.Thr326= | |
| NM_001243246.2:c.978C>T | NP_001230175.1:p.Thr326= |