COSMIC:
COSN8870571
COSN17153464
COSN19644791
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29433473 (EAS)
Genomes Max Group AF
0.26168721 (EAS)
Exomes Max Group AF
0.29737782 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.86833266C>T , CM000666.2:g.86833266C>T | GRCh38 |
| NC_000004.11:g.87754419C>T , CM000666.1:g.87754419C>T | GRCh37 |
| NC_000004.10:g.87973443C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273905.7:c.496+40G>A MANE Select | ENSP00000273905.6:n.496+40G>A | |
| ENST00000273905.6:c.496+40G>A | ENSP00000273905.6:n.496+40G>A | |
| ENST00000505535.1:n.505+40G>A | ||
| NM_197965.2:c.496+40G>A | NP_932069.1:n.496+40G>A | |
| XM_011531923.1:c.496+40G>A | XP_011530225.1:n.496+40G>A | |
| XM_011531924.1:c.112+40G>A | XP_011530226.1:n.112+40G>A | |
| NM_197965.3:c.496+40G>A MANE Select | NP_932069.1:n.496+40G>A |