Linked Data
ClinVar Variation Id:
309930
dbSNP Id:
rs778921032
ExAC:
12:57957877 C / A
gnomAD v2:
12-57957877-C-A
gnomAD v3:
12-57564094-C-A
gnomAD v4:
12-57564094-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57564094C>A , CM000674.2:g.57564094C>A | GRCh38 |
| NC_000012.11:g.57957877C>A , CM000674.1:g.57957877C>A | GRCh37 |
| NC_000012.10:g.56244144C>A | NCBI36 |
| NG_008155.1:g.19031C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.292-14C>A MANE Select | ENSP00000408979.2:n.292-14C>A | |
| ENST00000674619.1:c.292-14C>A | ENSP00000502270.1:n.292-14C>A | |
| ENST00000676250.1:c.-24-14C>A | ENSP00000501749.1:n.-24-14C>A | |
| ENST00000676359.1:c.130-14C>A | ENSP00000502609.1:n.130-14C>A | |
| ENST00000676457.1:c.292-366C>A | ENSP00000501588.1:n.292-366C>A | |
| ENST00000286452.5:c.130-366C>A | ENSP00000286452.5:n.130-366C>A | |
| ENST00000455537.6:c.292-14C>A | ENSP00000408979.2:n.292-14C>A | |
| NM_004984.2:c.292-14C>A | NP_004975.2:n.292-14C>A | |
| NM_001354705.1:c.130-366C>A | NP_001341634.1:n.130-366C>A | |
| NM_004984.3:c.292-14C>A | NP_004975.2:n.292-14C>A | |
| XR_002957324.1:n.525-14C>A | ||
| NM_004984.4:c.292-14C>A MANE Select | NP_004975.2:n.292-14C>A | |
| NM_001354705.2:c.130-366C>A | NP_001341634.1:n.130-366C>A |