Linked Data
ClinVar Variation Id:
1197335
ClinVar RCV Id:
RCV001561118
dbSNP Id:
rs111792924
gnomAD v2:
12-57975835-C-A
gnomAD v3:
12-57582052-C-A
gnomAD v4:
12-57582052-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57582052C>A , CM000674.2:g.57582052C>A | GRCh38 |
| NC_000012.11:g.57975835C>A , CM000674.1:g.57975835C>A | GRCh37 |
| NC_000012.10:g.56262102C>A | NCBI36 |
| NG_008155.1:g.36989C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2992+100C>A MANE Select | ENSP00000408979.2:n.2992+100C>A | |
| ENST00000674619.1:c.3013+100C>A | ENSP00000502270.1:n.3013+100C>A | |
| ENST00000675697.1:c.83+100C>A | ||
| ENST00000675737.1:n.496C>A | ||
| ENST00000675882.1:n.2515+100C>A | ||
| ENST00000675929.1:n.1550+100C>A | ||
| ENST00000676055.1:c.83+100C>A | ||
| ENST00000676437.1:c.17+100C>A | ||
| ENST00000676457.1:c.2887+100C>A | ENSP00000501588.1:n.2887+100C>A | |
| ENST00000286452.5:c.2725+100C>A | ENSP00000286452.5:n.2725+100C>A | |
| ENST00000455537.6:c.2992+100C>A | ENSP00000408979.2:n.2992+100C>A | |
| ENST00000552227.1:n.275+100C>A | ||
| NM_004984.2:c.2992+100C>A | NP_004975.2:n.2992+100C>A | |
| NM_001354705.1:c.2725+100C>A | NP_001341634.1:n.2725+100C>A | |
| NM_004984.3:c.2992+100C>A | NP_004975.2:n.2992+100C>A | |
| XR_002957324.1:n.3225+100C>A | ||
| NM_004984.4:c.2992+100C>A MANE Select | NP_004975.2:n.2992+100C>A | |
| NM_001354705.2:c.2725+100C>A | NP_001341634.1:n.2725+100C>A |