COSMIC:
COSN8305677 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89049101 (EAS)
Genomes Max Group AF
0.87123688 (EAS)
Exomes Max Group AF
0.89082908 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.6409641A>G , CM000669.2:g.6409641A>G | GRCh38 |
| NC_000007.13:g.6449272A>G , CM000669.1:g.6449272A>G | GRCh37 |
| NC_000007.12:g.6415797A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297056.11:c.*196T>C MANE Select | ENSP00000297056.6:n.*196T>C | |
| ENST00000297056.10:c.*196T>C | ENSP00000297056.6:n.*196T>C | |
| ENST00000425398.6:c.*196T>C | ENSP00000391171.2:n.*196T>C | |
| ENST00000436575.5:c.*196T>C | ENSP00000404785.1:n.*196T>C | |
| ENST00000462934.5:n.2074T>C | ||
| ENST00000482149.5:n.1867T>C | ||
| NM_001142936.1:c.*196T>C | NP_001136408.1:n.*196T>C | |
| NM_139179.3:c.*196T>C | NP_631918.3:n.*196T>C | |
| NM_139179.4:c.*196T>C MANE Select | NP_631918.3:n.*196T>C | |
| NM_001142936.2:c.*196T>C | NP_001136408.1:n.*196T>C |