ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00023415 (AMR)
Genomes Max Group AF
0.00026075 (AMR)
Exomes Max Group AF
0.00023289 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31150350G>A , CM000670.2:g.31150350G>A | GRCh38 |
| NC_000008.10:g.31007866G>A , CM000670.1:g.31007866G>A | GRCh37 |
| NC_000008.9:g.31127408G>A | NCBI36 |
| NG_008870.1:g.122089G>A , LRG_524:g.122089G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.3582G>A MANE Select | ENSP00000298139.5:p.Thr1194= | |
| ENST00000650667.1:c.*3196G>A | ENSP00000498593.1:n.*3196G>A | |
| ENST00000298139.5:c.3582G>A | ENSP00000298139.5:p.Thr1194= | |
| ENST00000521620.5:n.2215G>A | ||
| NM_000553.4:c.3582G>A , LRG_524t1:c.3582G>A | NP_000544.2:p.Thr1194= | |
| XM_011544639.1:c.3501G>A | XP_011542941.1:p.Thr1167= | |
| XM_011544640.1:c.1983G>A | XP_011542942.1:p.Thr661= | |
| XR_949470.1:n.3855G>A | ||
| XR_949471.1:n.3855G>A | ||
| XR_949472.1:n.3855G>A | ||
| XR_949643.1:n.457-1685C>T | ||
| XR_949644.1:n.381-1685C>T | ||
| XR_949647.1:n.1070-1685C>T | ||
| XR_949648.1:n.972-1685C>T | ||
| NM_000553.5:c.3582G>A | NP_000544.2:p.Thr1194= | |
| XM_011544639.3:c.3501G>A | XP_011542941.1:p.Thr1167= | |
| XM_024447265.1:c.3372G>A | XP_024303033.1:p.Thr1124= | |
| XR_949470.3:n.3883G>A | ||
| XR_949471.3:n.3883G>A | ||
| XR_949472.3:n.3883G>A | ||
| NM_000553.6:c.3582G>A MANE Select | NP_000544.2:p.Thr1194= |