COSMIC:
COSM4992250 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011042 (NFE)
Genomes Max Group AF
0.00011225 (NFE)
Exomes Max Group AF
0.00010637 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139121087G>A , CM000667.2:g.139121087G>A | GRCh38 |
| NC_000005.9:g.138456776G>A , CM000667.1:g.138456776G>A | GRCh37 |
| NC_000005.8:g.138484675G>A | NCBI36 |
| NG_008112.1:g.82290C>T | |
| NG_008112.2:g.82290C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.192C>T MANE Select | ENSP00000378294.2:p.Ala64= | |
| ENST00000265195.9:c.192C>T | ENSP00000265195.5:p.Ala64= | |
| ENST00000394817.6:c.192C>T | ENSP00000378294.2:p.Ala64= | |
| ENST00000504666.5:n.290C>T | ||
| ENST00000505353.1:c.192C>T | ENSP00000423662.1:p.Ala64= | |
| ENST00000505830.5:c.222C>T | ENSP00000426460.1:p.Ala74= | |
| ENST00000507002.5:c.222C>T | ENSP00000421890.1:p.Ala74= | |
| ENST00000508639.5:c.192C>T | ENSP00000427371.1:p.Ala64= | |
| ENST00000509400.5:n.495C>T | ||
| ENST00000509534.5:c.213C>T | ENSP00000426858.1:p.Ala71= | |
| ENST00000513453.5:c.192C>T | ENSP00000424014.1:p.Ala64= | |
| NM_001037633.1:c.192C>T | NP_001032722.1:p.Ala64= | |
| NM_022464.4:c.192C>T | NP_071909.1:p.Ala64= | |
| XM_011543570.1:c.222C>T | XP_011541872.1:p.Ala74= | |
| XM_011543570.2:c.222C>T | XP_011541872.1:p.Ala74= | |
| XM_024446164.1:c.192C>T | XP_024301932.1:p.Ala64= | |
| NM_022464.5:c.192C>T MANE Select | NP_071909.1:p.Ala64= | |
| NM_001037633.2:c.192C>T | NP_001032722.1:p.Ala64= |