COSMIC:
COSM32797 (not active)
Revel Score:
ENST00000039007 (MANE Select)
0.836
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04377679 (MID)
Genomes Max Group AF
0.04108168 (NFE)
Exomes Max Group AF
0.04447713 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408967A>G , CM000685.2:g.38408967A>G | GRCh38 |
| NC_000023.10:g.38268220A>G , CM000685.1:g.38268220A>G | GRCh37 |
| NC_000023.9:g.38153164A>G | NCBI36 |
| NG_008471.1:g.61485A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.809A>G MANE Select | ENSP00000039007.4:p.Gln270Arg | |
| ENST00000643344.1:c.*559A>G | ENSP00000496606.1:n.*559A>G | |
| ENST00000039007.4:c.809A>G | ENSP00000039007.4:p.Gln270Arg | |
| ENST00000465127.1:c.172-257154A>G | ENSP00000417050.1:n.172-257154A>G | |
| NM_000531.5:c.809A>G | NP_000522.3:p.Gln270Arg | |
| XM_017029556.1:c.809A>G | XP_016885045.1:p.Gln270Arg | |
| NM_000531.6:c.809A>G MANE Select | NP_000522.3:p.Gln270Arg |