Linked Data
ClinVar Variation Id:
728798
ClinVar RCV Id:
RCV000903342
dbSNP Id:
rs3730011
ExAC:
7:150710392 G / A
gnomAD v2:
7-150710392-G-A
gnomAD v3:
7-151013304-G-A
gnomAD v4:
7-151013304-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151013304G>A , CM000669.2:g.151013304G>A | GRCh38 |
| NC_000007.13:g.150710392G>A , CM000669.1:g.150710392G>A | GRCh37 |
| NC_000007.12:g.150341325G>A | NCBI36 |
| NG_011992.1:g.27246G>A | |
| NG_030317.1:g.16196C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297494.8:c.3180G>A (NOS3) MANE Select | ENSP00000297494.3:p.Glu1060= | |
| ENST00000639579.1:c.*631C>T (ATG9B) | ENSP00000491504.1:n.*631C>T | |
| ENST00000297494.7:c.3180G>A (NOS3) | ENSP00000297494.3:p.Glu1060= | |
| ENST00000404733.2:n.680C>T (ATG9B) | ||
| ENST00000461406.5:c.2562G>A (NOS3) | ENSP00000417143.1:p.Glu854= | |
| ENST00000468293.5:n.663G>A (NOS3) | ||
| ENST00000475454.1:n.141G>A (NOS3) | ||
| ENST00000477227.1:n.559G>A (NOS3) | ||
| ENST00000605952.5:c.*631C>T (ATG9B) | ENSP00000475737.2:n.*631C>T | |
| ENST00000617967.4:n.2711C>T (ATG9B) | ||
| NM_000603.4:c.3180G>A (NOS3) | NP_000594.2:p.Glu1060= | |
| NM_173681.5:c.*631C>T (ATG9B) | NP_775952.4:n.*631C>T | |
| NR_073169.1:n.2745C>T (ATG9B) | ||
| NR_133652.1:n.3482C>T (ATG9B) | ||
| NM_000603.5:c.3180G>A (NOS3) MANE Select | NP_000594.2:p.Glu1060= |