ClinVar Variation:
COSMIC:
COSM4987735
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02466309 (NFE)
Genomes Max Group AF
0.02535612 (NFE)
Exomes Max Group AF
0.02456666 (NFE)
Revel Score:
ENST00000288774
0.357
ENST00000447513 (MANE Select)
0.357
ENST00000507596
0.357
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406576T>C , CM000663.2:g.2406576T>C | GRCh38 |
| NC_000001.10:g.2338015T>C , CM000663.1:g.2338015T>C | GRCh37 |
| NC_000001.9:g.2327875T>C | NCBI36 |
| NG_008342.1:g.10996A>G | |
| NG_016128.1:g.19802T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.880A>G | ENSP00000288774.3:p.Thr294Ala | |
| ENST00000447513.7:c.820A>G MANE Select | ENSP00000407922.2:p.Thr274Ala | |
| ENST00000650293.1:c.774A>G | ||
| ENST00000288774.7:c.880A>G | ENSP00000288774.3:p.Thr294Ala | |
| ENST00000447513.6:c.820A>G | ENSP00000407922.2:p.Thr274Ala | |
| ENST00000507596.5:c.820A>G | ENSP00000424291.1:p.Thr274Ala | |
| ENST00000510434.1:c.*186A>G | ENSP00000423051.1:n.*186A>G | |
| NM_002617.3:c.820A>G | NP_002608.1:p.Thr274Ala | |
| NM_153818.1:c.880A>G | NP_722540.1:p.Thr294Ala | |
| XM_011541573.1:c.877A>G | XP_011539875.1:p.Thr293Ala | |
| XM_011541574.1:c.445A>G | XP_011539876.1:p.Thr149Ala | |
| XM_011541575.1:c.445A>G | XP_011539877.1:p.Thr149Ala | |
| XR_946666.1:n.936A>G | ||
| XR_946666.2:n.885A>G | ||
| NM_001374425.1:c.877A>G | NP_001361354.1:p.Thr293Ala | |
| NM_001374426.1:c.445A>G | NP_001361355.1:p.Thr149Ala | |
| NM_001374427.1:c.388A>G | NP_001361356.1:p.Thr130Ala | |
| NM_002617.4:c.820A>G MANE Select | NP_002608.1:p.Thr274Ala | |
| NM_153818.2:c.880A>G | NP_722540.1:p.Thr294Ala | |
| NR_164636.1:n.935A>G |