COSMIC:
COSM4002245 (not active)
COSM4002246 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46030916 (EAS)
Genomes Max Group AF
0.4441468 (EAS)
Exomes Max Group AF
0.46036156 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119086757A>G , CM000685.2:g.119086757A>G | GRCh38 |
| NC_000023.10:g.118220720A>G , CM000685.1:g.118220720A>G | GRCh37 |
| NC_000023.9:g.118104748A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691062.1:c.3945T>C MANE Select | ENSP00000510348.1:p.Ser1315= | |
| ENST00000402510.2:c.4473T>C | ENSP00000384670.2:p.Ser1491= | |
| NM_020721.1:c.4473T>C | NP_065772.1:p.Ser1491= | |
| XM_006724774.2:c.3945T>C | XP_006724837.1:p.Ser1315= | |
| XM_011531375.1:c.3747T>C | XP_011529677.1:p.Ser1249= | |
| XM_006724774.3:c.3945T>C | XP_006724837.1:p.Ser1315= | |
| XM_017029688.2:c.3990T>C | XP_016885177.1:p.Ser1330= | |
| XM_017029689.2:c.3792T>C | XP_016885178.1:p.Ser1264= | |
| XM_024452412.1:c.3747T>C | XP_024308180.1:p.Ser1249= | |
| NM_001394962.1:c.3945T>C MANE Select | NP_001381891.1:p.Ser1315= |