COSMIC:
COSM149309 (not active)
Revel Score:
ENST00000350028 (MANE Select)
0.080
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39443773 (EAS)
Genomes Max Group AF
0.37102094 (EAS)
Exomes Max Group AF
0.39601683 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43972242A>G , CM000684.2:g.43972242A>G | GRCh38 |
| NC_000022.10:g.44368122A>G , CM000684.1:g.44368122A>G | GRCh37 |
| NC_000022.9:g.42699455A>G | NCBI36 |
| NG_029057.1:g.21862A>G | |
| NG_029057.2:g.21862A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350028.5:c.329A>G MANE Select | ENSP00000345445.4:p.Asp110Gly | |
| ENST00000350028.4:c.329A>G | ENSP00000345445.4:p.Asp110Gly | |
| ENST00000493161.1:n.511A>G | ||
| NM_015380.4:c.329A>G | NP_056195.3:p.Asp110Gly | |
| NM_015380.5:c.329A>G MANE Select | NP_056195.3:p.Asp110Gly |