COSMIC:
COSM3758156 (not active)
Revel Score:
ENST00000288710 (MANE Select)
0.059
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21160687 (AMR)
Genomes Max Group AF
0.2060768 (EAS)
Exomes Max Group AF
0.22465673 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26444262A>G , CM000664.2:g.26444262A>G | GRCh38 |
| NC_000002.11:g.26667130A>G , CM000664.1:g.26667130A>G | GRCh37 |
| NC_000002.10:g.26520634A>G | NCBI36 |
| NG_042824.1:g.47351A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.1069A>G MANE Select | ENSP00000288710.2:p.Lys357Glu | |
| ENST00000649059.1:c.915A>G | ||
| ENST00000288710.6:c.1069A>G | ENSP00000288710.2:p.Lys357Glu | |
| ENST00000421869.5:c.*382A>G | ENSP00000414375.1:n.*382A>G | |
| ENST00000483675.1:n.670A>G | ||
| NM_145038.3:c.1069A>G | NP_659475.2:p.Lys357Glu | |
| NM_145038.4:c.1069A>G | NP_659475.2:p.Lys357Glu | |
| XM_005264637.3:c.451A>G | XP_005264694.1:p.Lys151Glu | |
| XM_005264638.3:c.49A>G | XP_005264695.1:p.Lys17Glu | |
| XM_017005271.1:c.49A>G | XP_016860760.1:p.Lys17Glu | |
| XM_024453218.1:c.49A>G | XP_024308986.1:p.Lys17Glu | |
| NM_145038.5:c.1069A>G MANE Select | NP_659475.2:p.Lys357Glu |