COSMIC:
COSN6472295 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49339451 (NFE)
Genomes Max Group AF
0.49340748 (NFE)
Exomes Max Group AF
0.26631571 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.89118386T>C , CM000663.2:g.89118386T>C | GRCh38 |
| NC_000001.10:g.89584069T>C , CM000663.1:g.89584069T>C | GRCh37 |
| NC_000001.9:g.89356657T>C | NCBI36 |
| NG_046995.1:g.12774A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370466.4:c.429-613A>G MANE Select | ENSP00000359497.3:n.429-613A>G | |
| ENST00000370466.3:c.429-613A>G | ENSP00000359497.3:n.429-613A>G | |
| ENST00000463660.1:n.1835A>G | ||
| ENST00000464839.5:c.429-613A>G | ENSP00000434282.1:n.429-613A>G | |
| NM_004120.4:c.429-613A>G | NP_004111.2:n.429-613A>G | |
| XR_002958570.1:n.607T>C | ||
| NM_004120.5:c.429-613A>G MANE Select | NP_004111.2:n.429-613A>G |