COSMIC:
COSM3761631 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66901201 (EAS)
Genomes Max Group AF
0.63819318 (EAS)
Exomes Max Group AF
0.67100036 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159907588C>T , CM000668.2:g.159907588C>T | GRCh38 |
| NC_000006.11:g.160328620C>T , CM000668.1:g.160328620C>T | GRCh37 |
| NC_000006.10:g.160248610C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674077.2:c.633C>T MANE Select | ENSP00000501180.2:p.Val211= | |
| ENST00000252660.5:c.633C>T | ENSP00000252660.4:p.Val211= | |
| NM_002377.2:c.633C>T | NP_002368.1:p.Val211= | |
| NM_001366704.1:c.633C>T | NP_001353633.1:p.Val211= | |
| NM_002377.3:c.633C>T | NP_002368.1:p.Val211= | |
| NM_002377.4:c.633C>T MANE Select | NP_002368.1:p.Val211= | |
| NM_001366704.2:c.633C>T | NP_001353633.1:p.Val211= |