Linked Data
ClinVar Variation Id:
325103
dbSNP Id:
rs143871421
ExAC:
17:7357848 G / A
gnomAD v2:
17-7357848-G-A
gnomAD v3:
17-7454529-G-A
gnomAD v4:
17-7454529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454529G>A , CM000679.2:g.7454529G>A | GRCh38 |
| NC_000017.10:g.7357848G>A , CM000679.1:g.7357848G>A | GRCh37 |
| NC_000017.9:g.7298572G>A | NCBI36 |
| NG_008026.1:g.14443G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1044+9G>A MANE Select | ENSP00000304290.2:n.1044+9G>A | |
| ENST00000306071.6:c.1044+9G>A | ENSP00000304290.2:n.1044+9G>A | |
| ENST00000536404.6:c.828+9G>A | ENSP00000439209.2:n.828+9G>A | |
| ENST00000570557.5:c.707+9G>A | ||
| ENST00000573209.1:n.1988+9G>A | ||
| ENST00000576360.1:c.681+9G>A | ENSP00000459092.1:n.681+9G>A | |
| NM_000747.2:c.1044+9G>A | NP_000738.2:n.1044+9G>A | |
| NM_000747.3:c.1044+9G>A MANE Select | NP_000738.2:n.1044+9G>A |