gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01932408 (SAS)
Genomes Max Group AF
0.01934005 (SAS)
Exomes Max Group AF
0.01915419 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42750280C>T , CM000663.2:g.42750280C>T | GRCh38 |
| NC_000001.10:g.43215951C>T , CM000663.1:g.43215951C>T | GRCh37 |
| NC_000001.9:g.42988538C>T | NCBI36 |
| NG_008123.1:g.21805G>A , LRG_5:g.21805G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296388.10:c.1626G>A MANE Select | ENSP00000296388.5:p.Thr542= | |
| ENST00000236040.8:c.1626G>A | ENSP00000236040.4:p.Thr542= | |
| ENST00000296388.9:c.1626G>A | ENSP00000296388.5:p.Thr542= | |
| ENST00000397054.7:c.1626G>A | ENSP00000380245.3:p.Thr542= | |
| ENST00000431412.3:c.548G>A | ||
| ENST00000460031.5:n.1818G>A | ||
| ENST00000481465.3:n.349G>A | ||
| ENST00000495874.5:n.1906G>A | ||
| NM_001146289.1:c.1626G>A , LRG_5t2:c.1626G>A | NP_001139761.1:p.Thr542= | |
| NM_001243246.1:c.1626G>A , LRG_5t3:c.1626G>A | NP_001230175.1:p.Thr542= | |
| NM_022356.3:c.1626G>A , LRG_5t1:c.1626G>A | NP_071751.3:p.Thr542= | |
| XM_005271110.2:c.618G>A | XP_005271167.1:p.Thr206= | |
| XM_011541947.1:c.651G>A | XP_011540249.1:p.Thr217= | |
| XM_011541948.1:c.651G>A | XP_011540250.1:p.Thr217= | |
| XM_011541949.1:c.648G>A | XP_011540251.1:p.Thr216= | |
| XM_017002051.2:c.651G>A | XP_016857540.1:p.Thr217= | |
| XM_017002052.2:c.648G>A | XP_016857541.1:p.Thr216= | |
| XR_946739.2:n.1751G>A | ||
| NM_022356.4:c.1626G>A MANE Select | NP_071751.3:p.Thr542= | |
| NM_001146289.2:c.1626G>A | NP_001139761.1:p.Thr542= | |
| NM_001243246.2:c.1626G>A | NP_001230175.1:p.Thr542= |