COSMIC:
COSM3760069 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42774463 (EAS)
Genomes Max Group AF
0.38841181 (EAS)
Exomes Max Group AF
0.43130505 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38722372G>C , CM000665.2:g.38722372G>C | GRCh38 |
| NC_000003.11:g.38763863G>C , CM000665.1:g.38763863G>C | GRCh37 |
| NC_000003.10:g.38738867G>C | NCBI36 |
| NG_031891.2:g.76639C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3393C>G MANE Select | ENSP00000390600.2:p.Thr1131= | |
| ENST00000643924.1:c.3390C>G | ENSP00000495595.1:p.Thr1130= | |
| ENST00000655275.1:c.3417C>G | ENSP00000499510.1:p.Thr1139= | |
| ENST00000449082.2:c.3393C>G | ENSP00000390600.2:p.Thr1131= | |
| NM_001293306.2:c.3390C>G | NP_001280235.2:p.Thr1130= | |
| NM_001293307.2:c.3099C>G | NP_001280236.2:p.Thr1033= | |
| NM_006514.3:c.3393C>G | NP_006505.3:p.Thr1131= | |
| XM_005265371.2:c.3402C>G | XP_005265428.1:p.Thr1134= | |
| XM_011533993.1:c.3399C>G | XP_011532295.1:p.Thr1133= | |
| XM_011533994.1:c.3108C>G | XP_011532296.1:p.Thr1036= | |
| XM_005265371.3:c.3402C>G | XP_005265428.1:p.Thr1134= | |
| XM_011533993.2:c.3399C>G | XP_011532295.1:p.Thr1133= | |
| XM_011533994.2:c.3108C>G | XP_011532296.1:p.Thr1036= | |
| NM_006514.4:c.3393C>G MANE Select | NP_006505.4:p.Thr1131= |