COSMIC:
COSN8862952 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59329963 (MID)
Genomes Max Group AF
0.47927027 (NFE)
Exomes Max Group AF
0.59426735 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52316511A>G , CM000672.2:g.52316511A>G | GRCh38 |
| NC_000010.10:g.54076271A>G , CM000672.1:g.54076271A>G | GRCh37 |
| NC_000010.9:g.53746277A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373970.4:c.548-43A>G MANE Select | ENSP00000363081.3:n.548-43A>G | |
| ENST00000373970.3:c.548-43A>G | ENSP00000363081.3:n.548-43A>G | |
| ENST00000476752.1:n.197-43A>G | ||
| ENST00000494277.5:n.171-43A>G | ||
| NM_012242.2:c.548-43A>G | NP_036374.1:n.548-43A>G | |
| NM_012242.3:c.548-43A>G | NP_036374.1:n.548-43A>G | |
| NM_012242.4:c.548-43A>G MANE Select | NP_036374.1:n.548-43A>G |