Linked Data
ClinVar Variation Id:
995628
dbSNP Id:
rs148066554
ExAC:
7:116165162 G / A
gnomAD v2:
7-116165162-G-A
gnomAD v3:
7-116525108-G-A
gnomAD v4:
7-116525108-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116525108G>A , CM000669.2:g.116525108G>A | GRCh38 |
| NC_000007.13:g.116165162G>A , CM000669.1:g.116165162G>A | GRCh37 |
| NC_000007.12:g.115952398G>A | NCBI36 |
| NG_012051.1:g.5324G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341049.7:c.30+16G>A MANE Select | ENSP00000339191.2:n.30+16G>A | |
| ENST00000614113.5:c.30+16G>A | ENSP00000479447.2:n.30+16G>A | |
| ENST00000341049.6:c.30+16G>A | ENSP00000339191.2:n.30+16G>A | |
| ENST00000393470.1:c.30+16G>A | ENSP00000377113.1:n.30+16G>A | |
| ENST00000451122.5:c.46G>A | ENSP00000409541.1:p.Gly16Arg | |
| ENST00000489856.1:n.81+16G>A | ||
| ENST00000614113.4:c.-761G>A | ENSP00000479447.1:n.-761G>A | |
| NM_001172895.1:c.-761G>A | NP_001166366.1:n.-761G>A | |
| NM_001753.4:c.30+16G>A | NP_001744.2:n.30+16G>A | |
| NM_001753.5:c.30+16G>A MANE Select | NP_001744.2:n.30+16G>A |