COSMIC:
COSM4461053 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00052869 (NFE)
Genomes Max Group AF
0.00076855 (NFE)
Exomes Max Group AF
0.00050442 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424461C>T , CM000681.2:g.41424461C>T | GRCh38 |
| NC_000019.9:g.41930366C>T , CM000681.1:g.41930366C>T | GRCh37 |
| NC_000019.8:g.46622206C>T | NCBI36 |
| NG_013004.1:g.31673C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1191C>T MANE Select | ENSP00000269980.2:p.Ala397= | |
| ENST00000269980.6:c.1191C>T | ENSP00000269980.2:p.Ala397= | |
| ENST00000457836.6:c.1200C>T | ENSP00000416000.2:p.Ala400= | |
| ENST00000540732.3:c.1293C>T | ENSP00000443246.1:p.Ala431= | |
| ENST00000544905.1:c.62-41C>T | ||
| ENST00000595085.5:c.922+1764C>T | ENSP00000471150.2:n.922+1764C>T | |
| NM_000709.3:c.1191C>T | NP_000700.1:p.Ala397= | |
| NM_001164783.1:c.1188C>T | NP_001158255.1:p.Ala396= | |
| NM_000709.4:c.1191C>T MANE Select | NP_000700.1:p.Ala397= | |
| NM_001164783.2:c.1188C>T | NP_001158255.1:p.Ala396= |