COSMIC:
COSM430806 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4912118 (EAS)
Genomes Max Group AF
0.49288698 (EAS)
Exomes Max Group AF
0.4892676 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13564574G>A , CM000674.2:g.13564574G>A | GRCh38 |
| NC_000012.11:g.13717508G>A , CM000674.1:g.13717508G>A | GRCh37 |
| NC_000012.10:g.13608775G>A | NCBI36 |
| NG_031854.1:g.420515C>T | |
| NG_031854.2:g.422439C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.2664C>T MANE Select | ENSP00000477455.1:p.Thr888= | |
| ENST00000637214.1:c.69+44029C>T | ENSP00000489997.1:n.69+44029C>T | |
| ENST00000609686.3:c.2664C>T | ENSP00000477455.1:p.Thr888= | |
| ENST00000628166.1:n.924C>T | ||
| NM_000834.3:c.2664C>T | NP_000825.2:p.Thr888= | |
| XM_005253351.2:c.450C>T | XP_005253408.1:p.Thr150= | |
| XM_011520628.1:c.2664C>T | XP_011518930.1:p.Thr888= | |
| XM_011520629.1:c.2664C>T | XP_011518931.1:p.Thr888= | |
| XM_011520630.1:c.2664C>T | XP_011518932.1:p.Thr888= | |
| NM_000834.4:c.2664C>T | NP_000825.2:p.Thr888= | |
| XM_005253351.3:c.450C>T | XP_005253408.1:p.Thr150= | |
| XM_011520628.2:c.2664C>T | XP_011518930.1:p.Thr888= | |
| XM_011520629.2:c.2664C>T | XP_011518931.1:p.Thr888= | |
| XM_017019219.2:c.2664C>T | XP_016874708.1:p.Thr888= | |
| NM_000834.5:c.2664C>T MANE Select | NP_000825.2:p.Thr888= |