COSMIC:
COSN14785834 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94398421 (NFE)
Genomes Max Group AF
0.94398421 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149008131A>G , CM000668.2:g.149008131A>G | GRCh38 |
| NC_000006.11:g.149329267A>G , CM000668.1:g.149329267A>G | GRCh37 |
| NC_000006.10:g.149370960A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367463.5:c.682-11008A>G MANE Select | ENSP00000356433.4:n.682-11008A>G | |
| ENST00000367463.4:c.682-11008A>G | ENSP00000356433.4:n.682-11008A>G | |
| NM_005715.2:c.682-11008A>G | NP_005706.1:n.682-11008A>G | |
| XM_011535376.1:c.*5-11008A>G | XP_011533678.1:n.*5-11008A>G | |
| XM_011535377.1:c.*5-3826A>G | XP_011533679.1:n.*5-3826A>G | |
| XR_942249.1:n.1289-11008A>G | ||
| XR_001743088.2:n.824-3826A>G | ||
| NM_005715.3:c.682-11008A>G MANE Select | NP_005706.1:n.682-11008A>G |