COSMIC:
COSM4156322 (not active)
Revel Score:
ENST00000249016 (MANE Select)
0.100
ENST00000381433
0.100
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98083391 (EAS)
Genomes Max Group AF
0.95541161 (EAS)
Exomes Max Group AF
0.98172399 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40679539A>G , CM000684.2:g.40679539A>G | GRCh38 |
| NC_000022.10:g.41075543A>G , CM000684.1:g.41075543A>G | GRCh37 |
| NC_000022.9:g.39405489A>G | NCBI36 |
| NG_029686.1:g.5362A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249016.5:c.-114A>G MANE Select | ENSP00000249016.5:n.-114A>G | |
| ENST00000381433.3:c.-114A>G | ENSP00000370841.3:n.-114A>G | |
| ENST00000249016.4:c.94A>G | ENSP00000249016.4:p.Asn32Asp | |
| ENST00000381433.2:c.94A>G | ENSP00000370841.2:p.Asn32Asp | |
| ENST00000498400.1:n.132+135A>G | ||
| NM_005297.3:c.94A>G | NP_005288.3:p.Asn32Asp | |
| XR_938268.1:n.348+1069T>C | ||
| NM_005297.4:c.-114A>G MANE Select | NP_005288.4:n.-114A>G |