Linked Data
ClinVar Variation Id:
1216129
ClinVar RCV Id:
RCV001593792
dbSNP Id:
rs149354963
gnomAD v2:
12-57961601-G-A
gnomAD v3:
12-57567818-G-A
gnomAD v4:
12-57567818-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57567818G>A , CM000674.2:g.57567818G>A | GRCh38 |
| NC_000012.11:g.57961601G>A , CM000674.1:g.57961601G>A | GRCh37 |
| NC_000012.10:g.56247868G>A | NCBI36 |
| NG_008155.1:g.22755G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.714+200G>A MANE Select | ENSP00000408979.2:n.714+200G>A | |
| ENST00000674619.1:c.714+200G>A | ENSP00000502270.1:n.714+200G>A | |
| ENST00000676457.1:c.609+200G>A | ENSP00000501588.1:n.609+200G>A | |
| ENST00000286452.5:c.447+200G>A | ENSP00000286452.5:n.447+200G>A | |
| ENST00000455537.6:c.714+200G>A | ENSP00000408979.2:n.714+200G>A | |
| NM_004984.2:c.714+200G>A | NP_004975.2:n.714+200G>A | |
| NM_001354705.1:c.447+200G>A | NP_001341634.1:n.447+200G>A | |
| NM_004984.3:c.714+200G>A | NP_004975.2:n.714+200G>A | |
| XR_002957324.1:n.947+200G>A | ||
| NM_004984.4:c.714+200G>A MANE Select | NP_004975.2:n.714+200G>A | |
| NM_001354705.2:c.447+200G>A | NP_001341634.1:n.447+200G>A |