ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005281 (AFR)
Genomes Max Group AF
0.00007889 (AFR)
Exomes Max Group AF
0.0000436 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31083731G>A , CM000670.2:g.31083731G>A | GRCh38 |
| NC_000008.10:g.30941247G>A , CM000670.1:g.30941247G>A | GRCh37 |
| NC_000008.9:g.31060789G>A | NCBI36 |
| NG_008870.1:g.55470G>A , LRG_524:g.55470G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.1302G>A MANE Select | ENSP00000298139.5:p.Thr434= | |
| ENST00000650667.1:c.*916G>A | ENSP00000498593.1:n.*916G>A | |
| ENST00000651642.1:c.565-1435G>A | ENSP00000498779.1:n.565-1435G>A | |
| ENST00000298139.5:c.1302G>A | ENSP00000298139.5:p.Thr434= | |
| NM_000553.4:c.1302G>A , LRG_524t1:c.1302G>A | NP_000544.2:p.Thr434= | |
| XM_011544639.1:c.1302G>A | XP_011542941.1:p.Thr434= | |
| XR_949470.1:n.1575G>A | ||
| XR_949471.1:n.1575G>A | ||
| XR_949472.1:n.1575G>A | ||
| NM_000553.5:c.1302G>A | NP_000544.2:p.Thr434= | |
| XM_011544639.3:c.1302G>A | XP_011542941.1:p.Thr434= | |
| XM_024447265.1:c.1092G>A | XP_024303033.1:p.Thr364= | |
| XR_949470.3:n.1603G>A | ||
| XR_949471.3:n.1603G>A | ||
| XR_949472.3:n.1603G>A | ||
| NM_000553.6:c.1302G>A MANE Select | NP_000544.2:p.Thr434= |