COSMIC:
COSM4132741 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09347466 (SAS)
Genomes Max Group AF
0.09281236 (AFR)
Exomes Max Group AF
0.09337843 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6681980G>A , CM000681.2:g.6681980G>A | GRCh38 |
| NC_000019.9:g.6681991G>A , CM000681.1:g.6681991G>A | GRCh37 |
| NC_000019.8:g.6632991G>A | NCBI36 |
| NG_009557.1:g.43672C>T , LRG_27:g.43672C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2659C>T | ||
| ENST00000695653.1:c.2220C>T | ENSP00000512084.1:p.Ala740= | |
| ENST00000695654.1:c.3336C>T | ENSP00000512085.1:p.Ala1112= | |
| ENST00000695689.1:c.282C>T | ENSP00000512101.1:n.282C>T | |
| ENST00000695690.1:n.502C>T | ||
| ENST00000695691.1:n.502C>T | ||
| ENST00000245907.11:c.4311C>T MANE Select | ENSP00000245907.4:p.Ala1437= | |
| ENST00000245907.10:c.4311C>T | ENSP00000245907.4:p.Ala1437= | |
| ENST00000596548.1:c.432C>T | ENSP00000469744.1:p.Ala144= | |
| ENST00000599899.5:n.1270C>T | ||
| ENST00000601008.1:c.242-4022C>T | ENSP00000471384.1:n.242-4022C>T | |
| NM_000064.3:c.4311C>T | NP_000055.2:p.Ala1437= | |
| NM_000064.4:c.4311C>T MANE Select | NP_000055.2:p.Ala1437= |