COSMIC:
COSN17595859 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48495982 (NFE)
Genomes Max Group AF
0.48495982 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.51882949T>C , CM000679.2:g.51882949T>C | GRCh38 |
| NC_000017.10:g.49960309T>C , CM000679.1:g.49960309T>C | GRCh37 |
| NC_000017.9:g.47315308T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451037.7:c.279+48041A>G MANE Select | ENSP00000405388.2:n.279+48041A>G | |
| ENST00000285273.8:c.279+48041A>G | ENSP00000285273.4:n.279+48041A>G | |
| ENST00000442502.6:c.279+48041A>G | ENSP00000390666.2:n.279+48041A>G | |
| ENST00000451037.6:c.279+48041A>G | ENSP00000405388.2:n.279+48041A>G | |
| ENST00000570565.5:c.54+48041A>G | ENSP00000459619.1:n.54+48041A>G | |
| ENST00000571371.5:c.*321+48041A>G | ENSP00000461908.1:n.*321+48041A>G | |
| ENST00000575181.1:c.279+48041A>G | ENSP00000460238.1:n.279+48041A>G | |
| NM_001082533.1:c.279+48041A>G | NP_001076002.1:n.279+48041A>G | |
| NM_001082534.1:c.279+48041A>G | NP_001076003.1:n.279+48041A>G | |
| NM_020178.4:c.279+48041A>G | NP_064563.1:n.279+48041A>G | |
| NM_020178.5:c.279+48041A>G MANE Select | NP_064563.1:n.279+48041A>G | |
| NM_001082534.2:c.279+48041A>G | NP_001076003.1:n.279+48041A>G |