COSMIC:
COSN14767282 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95642082 (AFR)
Genomes Max Group AF
0.95194006 (AFR)
Exomes Max Group AF
0.95665302 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134429310A>G , CM000671.2:g.134429310A>G | GRCh38 |
| NC_000009.11:g.137321156A>G , CM000671.1:g.137321156A>G | GRCh37 |
| NC_000009.10:g.136460977A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.1043+70A>G MANE Select | ENSP00000419692.1:n.1043+70A>G | |
| ENST00000672570.1:c.962+70A>G | ENSP00000500402.1:n.962+70A>G | |
| ENST00000356384.4:n.1453+70A>G | ||
| ENST00000481739.1:c.1043+70A>G | ENSP00000419692.1:n.1043+70A>G | |
| NM_001291920.1:c.962+70A>G | NP_001278849.1:n.962+70A>G | |
| NM_001291921.1:c.752+70A>G | NP_001278850.1:n.752+70A>G | |
| NM_002957.5:c.1043+70A>G | NP_002948.1:n.1043+70A>G | |
| NM_002957.6:c.1043+70A>G MANE Select | NP_002948.1:n.1043+70A>G | |
| NM_001291921.2:c.752+70A>G | NP_001278850.1:n.752+70A>G | |
| NM_001291920.2:c.962+70A>G | NP_001278849.1:n.962+70A>G |