COSMIC:
COSM6352257 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76190987 (AFR)
Genomes Max Group AF
0.75005139 (AFR)
Exomes Max Group AF
0.77175953 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9251667C>T , CM000681.2:g.9251667C>T | GRCh38 |
| NC_000019.9:g.9362343C>T , CM000681.1:g.9362343C>T | GRCh37 |
| NC_000019.8:g.9223343C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456448.3:c.624C>T MANE Select | ENSP00000387523.1:p.Ser208= | |
| ENST00000641946.1:c.612C>T | ENSP00000494223.1:p.Ser204= | |
| ENST00000456448.2:c.624C>T | ENSP00000387523.1:p.Ser208= | |
| NM_001079935.1:c.624C>T | NP_001073404.1:p.Ser208= | |
| NM_001079935.2:c.624C>T MANE Select | NP_001073404.1:p.Ser208= | |
| NM_001386108.1:c.612C>T | NP_001373037.1:p.Ser204= |