Linked Data
ClinVar Variation Id:
1584960
ClinVar RCV Id:
RCV002102971
dbSNP Id:
rs993330230
gnomAD v3:
12-57569078-C-T
gnomAD v4:
12-57569078-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57569078C>T , CM000674.2:g.57569078C>T | GRCh38 |
| NC_000012.11:g.57962861C>T , CM000674.1:g.57962861C>T | GRCh37 |
| NC_000012.10:g.56249128C>T | NCBI36 |
| NG_008155.1:g.24015C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.819+11C>T MANE Select | ENSP00000408979.2:n.819+11C>T | |
| ENST00000674619.1:c.819+11C>T | ENSP00000502270.1:n.819+11C>T | |
| ENST00000676457.1:c.714+11C>T | ENSP00000501588.1:n.714+11C>T | |
| ENST00000286452.5:c.552+11C>T | ENSP00000286452.5:n.552+11C>T | |
| ENST00000455537.6:c.819+11C>T | ENSP00000408979.2:n.819+11C>T | |
| NM_004984.2:c.819+11C>T | NP_004975.2:n.819+11C>T | |
| NM_001354705.1:c.552+11C>T | NP_001341634.1:n.552+11C>T | |
| NM_004984.3:c.819+11C>T | NP_004975.2:n.819+11C>T | |
| XR_002957324.1:n.1052+11C>T | ||
| NM_004984.4:c.819+11C>T MANE Select | NP_004975.2:n.819+11C>T | |
| NM_001354705.2:c.552+11C>T | NP_001341634.1:n.552+11C>T |