COSMIC:
COSM3758332 (not active)
Revel Score:
ENST00000410009 (MANE Select)
0.081
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17097458 (AFR)
Genomes Max Group AF
0.16922869 (AFR)
Exomes Max Group AF
0.17084704 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831175T>C , CM000664.2:g.70831175T>C | GRCh38 |
| NC_000002.11:g.71058306T>C , CM000664.1:g.71058306T>C | GRCh37 |
| NC_000002.10:g.70911814T>C | NCBI36 |
| NG_033914.1:g.9649A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.862A>G MANE Select | ENSP00000386378.3:p.Asn288Asp | |
| ENST00000410009.4:c.862A>G | ENSP00000386378.3:p.Asn288Asp | |
| NM_015717.4:c.862A>G | NP_056532.4:p.Asn288Asp | |
| XM_011532874.1:c.862A>G | XP_011531176.1:p.Asn288Asp | |
| XM_011532875.1:c.850+12A>G | XP_011531177.1:n.850+12A>G | |
| XM_011532876.1:c.836+526A>G | XP_011531178.1:n.836+526A>G | |
| XM_011532875.2:c.850+12A>G | XP_011531177.1:n.850+12A>G | |
| XM_011532876.2:c.836+526A>G | XP_011531178.1:n.836+526A>G | |
| NM_015717.5:c.862A>G MANE Select | NP_056532.4:p.Asn288Asp |