COSMIC:
COSN8863176 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32702466 (SAS)
Genomes Max Group AF
0.31715093 (SAS)
Exomes Max Group AF
0.32689897 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113933165A>G , CM000673.2:g.113933165A>G | GRCh38 |
| NC_000011.9:g.113803887A>G , CM000673.1:g.113803887A>G | GRCh37 |
| NC_000011.8:g.113309097A>G | NCBI36 |
| NG_011483.1:g.33299A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260191.8:c.696+72A>G MANE Select | ENSP00000260191.2:n.696+72A>G | |
| ENST00000260191.7:c.696+72A>G | ENSP00000260191.2:n.696+72A>G | |
| ENST00000260191.6:c.696+72A>G | ENSP00000260191.2:n.696+72A>G | |
| ENST00000537778.5:c.663+72A>G | ENSP00000443118.1:n.663+72A>G | |
| ENST00000543092.1:c.482+72A>G | ||
| NM_006028.4:c.696+72A>G | NP_006019.1:n.696+72A>G | |
| XM_011543063.1:c.663+72A>G | XP_011541365.1:n.663+72A>G | |
| XM_011543064.1:c.495+72A>G | XP_011541366.1:n.495+72A>G | |
| XM_011543065.1:c.489+72A>G | XP_011541367.1:n.489+72A>G | |
| XM_011543066.1:c.663+72A>G | XP_011541368.1:n.663+72A>G | |
| NM_001363563.1:c.663+72A>G | NP_001350492.1:n.663+72A>G | |
| XM_017018552.2:c.489+72A>G | XP_016874041.1:n.489+72A>G | |
| XM_024448767.1:c.402+72A>G | XP_024304535.1:n.402+72A>G | |
| XR_001748034.2:n.947+72A>G | ||
| NM_001363563.2:c.663+72A>G | NP_001350492.1:n.663+72A>G | |
| NM_006028.5:c.696+72A>G MANE Select | NP_006019.1:n.696+72A>G |