COSMIC:
COSM4985364 (not active)
Revel Score:
ENST00000209929 (MANE Select)
0.087
ENST00000441535
0.087
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29002879 (AFR)
Genomes Max Group AF
0.28766228 (AFR)
Exomes Max Group AF
0.289989 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171207773T>G , CM000663.2:g.171207773T>G | GRCh38 |
| NC_000001.10:g.171176912T>G , CM000663.1:g.171176912T>G | GRCh37 |
| NC_000001.9:g.169443536T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209929.10:c.1239T>G MANE Select | ENSP00000209929.8:p.Asn413Lys | |
| ENST00000209929.9:c.1239T>G | ENSP00000209929.8:p.Asn413Lys | |
| ENST00000488431.1:n.231T>G | ||
| ENST00000529935.5:c.1024T>G | ENSP00000487002.1:n.1024T>G | |
| NM_001301347.1:c.579T>G | NP_001288276.1:p.Asn193Lys | |
| NM_001460.4:c.1239T>G | NP_001451.2:p.Asn413Lys | |
| XR_426768.2:n.1356T>G | ||
| XR_921761.1:n.1356T>G | ||
| XR_922278.1:n.508-39585A>C | ||
| NM_001365900.1:c.1044T>G | NP_001352829.1:p.Asn348Lys | |
| NR_158622.1:n.1259T>G | ||
| XR_001737072.2:n.1306T>G | ||
| XR_001738291.2:n.1307-39585A>C | ||
| XR_921761.3:n.1306T>G | ||
| XR_922278.3:n.1307-39585A>C | ||
| NM_001460.5:c.1239T>G MANE Select | NP_001451.2:p.Asn413Lys | |
| NR_160266.1:n.1167T>G | ||
| NM_001301347.2:c.579T>G | NP_001288276.1:p.Asn193Lys |