COSMIC:
COSN503920 (not active)
COSN8892529 (not active)
COSN26732124 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54247672 (AMR)
Genomes Max Group AF
0.44717654 (AMR)
Exomes Max Group AF
0.57352166 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151012483G>T , CM000669.2:g.151012483G>T | GRCh38 |
| NC_000007.13:g.150709571G>T , CM000669.1:g.150709571G>T | GRCh37 |
| NC_000007.12:g.150340504G>T | NCBI36 |
| NG_011992.1:g.26425G>T | |
| NG_030317.1:g.17017C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297494.8:c.3106+11G>T (NOS3) MANE Select | ENSP00000297494.3:n.3106+11G>T | |
| ENST00000639579.1:c.*1452C>A (ATG9B) | ENSP00000491504.1:n.*1452C>A | |
| ENST00000297494.7:c.3106+11G>T (NOS3) | ENSP00000297494.3:n.3106+11G>T | |
| ENST00000461406.5:c.2488+11G>T (NOS3) | ENSP00000417143.1:n.2488+11G>T | |
| ENST00000468293.5:n.589+11G>T (NOS3) | ||
| ENST00000475454.1:n.67+11G>T (NOS3) | ||
| ENST00000477227.1:n.485+11G>T (NOS3) | ||
| ENST00000498521.2:n.161-33C>A (ATG9B) | ||
| ENST00000605952.5:c.*1452C>A (ATG9B) | ENSP00000475737.2:n.*1452C>A | |
| NM_000603.4:c.3106+11G>T (NOS3) | NP_000594.2:n.3106+11G>T | |
| NM_173681.5:c.*1452C>A (ATG9B) | NP_775952.4:n.*1452C>A | |
| NR_073169.1:n.3566C>A (ATG9B) | ||
| NR_133652.1:n.4303C>A (ATG9B) | ||
| NM_000603.5:c.3106+11G>T (NOS3) MANE Select | NP_000594.2:n.3106+11G>T |