ClinVar RCV:
ClinVar Variation:
COSMIC:
COSN8992671
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85364513 (AFR)
Genomes Max Group AF
0.84986779 (AFR)
Exomes Max Group AF
0.85371209 (AFR)
Revel Score:
ENST00000434152
0.013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44905910C>G , CM000681.2:g.44905910C>G | GRCh38 |
| NC_000019.9:g.45409167C>G , CM000681.1:g.45409167C>G | GRCh37 |
| NC_000019.8:g.50101007C>G | NCBI36 |
| NG_007084.2:g.5129C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.-24+69C>G MANE Select | ENSP00000252486.3:n.-24+69C>G | |
| ENST00000252486.8:c.-24+69C>G | ENSP00000252486.3:n.-24+69C>G | |
| ENST00000434152.5:c.42C>G | ENSP00000413653.2:p.Asn14Lys | |
| ENST00000446996.5:c.-39+69C>G | ENSP00000413135.1:n.-39+69C>G | |
| ENST00000485628.2:n.46+69C>G | ||
| NM_000041.3:c.-24+69C>G | NP_000032.1:n.-24+69C>G | |
| NM_001302688.1:c.42C>G | NP_001289617.1:p.Asn14Lys | |
| NM_001302691.1:c.-39+69C>G | NP_001289620.1:n.-39+69C>G | |
| NM_000041.4:c.-24+69C>G MANE Select | NP_000032.1:n.-24+69C>G | |
| NM_001302688.2:c.42C>G | NP_001289617.1:p.Asn14Lys | |
| NM_001302691.2:c.-39+69C>G | NP_001289620.1:n.-39+69C>G |