Linked Data
ClinVar Variation Id:
306625
ClinVar RCV Id:
RCV000366431
dbSNP Id:
rs886048787
gnomAD v2:
12-100774738-A-T
gnomAD v3:
12-100380960-A-T
gnomAD v4:
12-100380960-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100380960A>T , CM000674.2:g.100380960A>T | GRCh38 |
| NC_000012.11:g.100774738A>T , CM000674.1:g.100774738A>T | GRCh37 |
| NC_000012.10:g.99298869A>T | NCBI36 |
| NG_021175.1:g.28882A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323346.10:c.354+7A>T MANE Select | ENSP00000316909.4:n.354+7A>T | |
| ENST00000323346.9:c.354+7A>T | ENSP00000316909.4:n.354+7A>T | |
| ENST00000392989.3:c.354+7A>T | ENSP00000376715.3:n.354+7A>T | |
| NM_001145288.1:c.354+7A>T | NP_001138760.1:n.354+7A>T | |
| NM_139319.2:c.354+7A>T | NP_647480.1:n.354+7A>T | |
| NM_001145288.2:c.354+7A>T | NP_001138760.1:n.354+7A>T | |
| NM_139319.3:c.354+7A>T MANE Select | NP_647480.1:n.354+7A>T |