COSMIC:
COSM5654068 (not active)
COSM5654069 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01420054 (NFE)
Genomes Max Group AF
0.01491969 (NFE)
Exomes Max Group AF
0.01411383 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34762618C>T , CM000668.2:g.34762618C>T | GRCh38 |
| NC_000006.11:g.34730395C>T , CM000668.1:g.34730395C>T | GRCh37 |
| NC_000006.10:g.34838373C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244520.10:c.75C>T MANE Select | ENSP00000244520.5:p.Cys25= | |
| ENST00000244520.9:c.75C>T | ENSP00000244520.5:p.Cys25= | |
| ENST00000374017.3:c.138C>T | ENSP00000363129.3:p.Cys46= | |
| ENST00000374018.5:c.-49C>T | ENSP00000363130.1:n.-49C>T | |
| ENST00000474635.1:n.67C>T | ||
| NM_003093.2:c.75C>T | NP_003084.1:p.Cys25= | |
| NR_029472.1:n.482C>T | ||
| NM_003093.3:c.75C>T MANE Select | NP_003084.1:p.Cys25= | |
| NR_029472.2:n.71C>T |