COSMIC:
COSM5512026 (not active)
COSM5512027 (not active)
Revel Score:
ENST00000265403 (MANE Select)
0.084
ENST00000458688
0.084
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07859705 (MID)
Genomes Max Group AF
0.02263111 (NFE)
Exomes Max Group AF
0.07957152 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68830733A>G , CM000666.2:g.68830733A>G | GRCh38 |
| NC_000004.11:g.69696451A>G , CM000666.1:g.69696451A>G | GRCh37 |
| NC_000004.10:g.69731040A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265403.12:c.1441A>G MANE Select | ENSP00000265403.7:p.Asn481Asp | |
| ENST00000265403.11:c.1441A>G | ENSP00000265403.7:p.Asn481Asp | |
| ENST00000458688.2:c.1189A>G | ENSP00000413420.2:p.Asn397Asp | |
| NM_001075.5:c.1441A>G | NP_001066.1:p.Asn481Asp | |
| NM_001144767.2:c.1189A>G | NP_001138239.1:p.Asn397Asp | |
| NM_001290091.1:c.697A>G | NP_001277020.1:p.Asn233Asp | |
| XM_017008585.2:c.1432A>G | XP_016864074.1:p.Asn478Asp | |
| NM_001075.6:c.1441A>G MANE Select | NP_001066.1:p.Asn481Asp | |
| NM_001144767.3:c.1189A>G | NP_001138239.1:p.Asn397Asp | |
| NM_001290091.2:c.697A>G | NP_001277020.1:p.Asn233Asp |