COSMIC:
COSM3762237 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20088025 (NFE)
Genomes Max Group AF
0.20070678 (NFE)
Exomes Max Group AF
0.2007356 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100627408G>A , CM000669.2:g.100627408G>A | GRCh38 |
| NC_000007.13:g.100225031G>A , CM000669.1:g.100225031G>A | GRCh37 |
| NC_000007.12:g.100062967G>A | NCBI36 |
| NG_007989.1:g.19143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.1851C>T MANE Select | ENSP00000223051.3:p.Ala617= | |
| ENST00000223051.7:c.1851C>T | ENSP00000223051.3:p.Ala617= | |
| ENST00000431692.5:c.*526C>T | ENSP00000413905.1:n.*526C>T | |
| ENST00000461176.1:n.197C>T | ||
| ENST00000462090.5:n.887C>T | ||
| ENST00000462107.1:c.1851C>T | ENSP00000420525.1:p.Ala617= | |
| ENST00000465294.5:n.1771C>T | ||
| ENST00000476304.5:n.1472C>T | ||
| ENST00000490084.5:c.1204C>T | ||
| NM_001206855.1:c.1338C>T | NP_001193784.1:p.Ala446= | |
| NM_003227.3:c.1851C>T | NP_003218.2:p.Ala617= | |
| XM_005250553.3:c.1851C>T | XP_005250610.1:p.Ala617= | |
| XM_005250554.3:c.1851C>T | XP_005250611.1:p.Ala617= | |
| XR_927814.1:n.434-3748G>A | ||
| NM_001206855.2:c.1338C>T | NP_001193784.1:p.Ala446= | |
| XM_005250553.4:c.1851C>T | XP_005250610.1:p.Ala617= | |
| XM_017012573.1:c.1851C>T | XP_016868062.1:p.Ala617= | |
| NM_003227.4:c.1851C>T MANE Select | NP_003218.2:p.Ala617= | |
| NM_001206855.3:c.1338C>T | NP_001193784.1:p.Ala446= |