COSMIC:
COSM4991514 (not active)
Revel Score:
ENST00000337818
0.639
ENST00000397231
0.639
ENST00000216181 (MANE Select)
0.639
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00062062 (NFE)
Genomes Max Group AF
0.00057234 (NFE)
Exomes Max Group AF
0.00061492 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36286753T>C , CM000684.2:g.36286753T>C | GRCh38 |
| NC_000022.10:g.36682799T>C , CM000684.1:g.36682799T>C | GRCh37 |
| NC_000022.9:g.35012745T>C | NCBI36 |
| NG_011884.2:g.106266A>G , LRG_567:g.106266A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685708.1:n.1459A>G | ||
| ENST00000685801.1:c.5089A>G | ENSP00000510688.1:p.Lys1697Glu | |
| ENST00000691109.1:n.5321A>G | ||
| ENST00000216181.11:c.5026A>G MANE Select | ENSP00000216181.6:p.Lys1676Glu | |
| ENST00000216181.9:c.5026A>G | ENSP00000216181.5:p.Lys1676Glu | |
| NM_002473.5:c.5026A>G , LRG_567t1:c.5026A>G | NP_002464.1:p.Lys1676Glu | |
| XM_011530197.1:c.5026A>G | XP_011528499.1:p.Lys1676Glu | |
| XM_011530197.2:c.5026A>G | XP_011528499.1:p.Lys1676Glu | |
| XM_017028803.1:c.5026A>G | XP_016884292.1:p.Lys1676Glu | |
| XM_017028804.1:c.5026A>G | XP_016884293.1:p.Lys1676Glu | |
| XM_017028805.1:c.5026A>G | XP_016884294.1:p.Lys1676Glu | |
| XM_017028806.1:c.5026A>G | XP_016884295.1:p.Lys1676Glu | |
| NM_002473.6:c.5026A>G MANE Select | NP_002464.1:p.Lys1676Glu |