COSMIC:
COSM3759164 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23226201 (AFR)
Genomes Max Group AF
0.23106002 (AFR)
Exomes Max Group AF
0.23306015 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36933957C>T , CM000684.2:g.36933957C>T | GRCh38 |
| NC_000022.10:g.37329999C>T , CM000684.1:g.37329999C>T | GRCh37 |
| NC_000022.9:g.35659945C>T | NCBI36 |
| NG_008040.1:g.25325C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403662.8:c.1278C>T MANE Select | ENSP00000384053.3:p.Ser426= | |
| ENST00000262825.9:c.1278C>T | ENSP00000262825.6:p.Ser426= | |
| ENST00000403662.7:c.1278C>T | ENSP00000384053.3:p.Ser426= | |
| ENST00000406230.5:c.1296C>T | ENSP00000385271.1:p.Ser432= | |
| NM_000395.2:c.1278C>T | NP_000386.1:p.Ser426= | |
| XM_005261340.2:c.1296C>T | XP_005261397.1:p.Ser432= | |
| XM_011529903.1:c.1296C>T | XP_011528205.1:p.Ser432= | |
| XM_011529904.1:c.1278C>T | XP_011528206.1:p.Ser426= | |
| XM_011529905.1:c.1296C>T | XP_011528207.1:p.Ser432= | |
| XM_005261340.3:c.1296C>T | XP_005261397.1:p.Ser432= | |
| XM_011529903.2:c.1296C>T | XP_011528205.1:p.Ser432= | |
| XM_011529904.2:c.1278C>T | XP_011528206.1:p.Ser426= | |
| XM_011529905.2:c.1296C>T | XP_011528207.1:p.Ser432= | |
| NM_000395.3:c.1278C>T MANE Select | NP_000386.1:p.Ser426= |