COSMIC:
COSM3733650 (not active)
Revel Score:
ENST00000281830 (MANE Select)
0.136
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79040553 (SAS)
Genomes Max Group AF
0.78838461 (SAS)
Exomes Max Group AF
0.78947395 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053265T>G , CM000664.2:g.223053265T>G | GRCh38 |
| NC_000002.11:g.223917983T>G , CM000664.1:g.223917983T>G | GRCh37 |
| NC_000002.10:g.223626227T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.435T>G MANE Select | ENSP00000281830.5:p.Asp145Glu | |
| ENST00000281830.3:c.588T>G | ENSP00000281830.4:p.Asp196Glu | |
| ENST00000488477.2:n.75+991T>G | ||
| NM_080671.3:c.588T>G | NP_542402.3:p.Asp196Glu | |
| NM_080671.4:c.435T>G MANE Select | NP_542402.4:p.Asp145Glu |