COSMIC:
COSN14905559 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32911482 (MID)
Genomes Max Group AF
0.31942643 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143640440A>G , CM000668.2:g.143640440A>G | GRCh38 |
| NC_000006.11:g.143961577A>G , CM000668.1:g.143961577A>G | GRCh37 |
| NC_000006.10:g.144003270A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305766.10:c.13+32118A>G | ENSP00000305530.6:n.13+32118A>G | |
| ENST00000367584.8:c.218-71576A>G | ENSP00000356556.4:n.218-71576A>G | |
| ENST00000427704.6:c.13+32118A>G | ENSP00000391763.2:n.13+32118A>G | |
| NM_001100166.1:c.13+32118A>G | NP_001093636.1:n.13+32118A>G | |
| NM_014721.2:c.13+32118A>G | NP_055536.2:n.13+32118A>G | |
| NM_001100166.2:c.13+32118A>G | NP_001093636.1:n.13+32118A>G | |
| NM_014721.3:c.13+32118A>G | NP_055536.2:n.13+32118A>G | |
| NM_001394736.1:c.218-71576A>G | NP_001381665.1:n.218-71576A>G | |
| NM_001394738.1:c.13+32118A>G | NP_001381667.1:n.13+32118A>G | |
| NR_172204.1:n.143+32118A>G |