Linked Data
ClinVar Variation Id:
362654
ClinVar RCV Id:
RCV000394363
dbSNP Id:
rs886062837
gnomAD v3:
8-25423441-T-C
gnomAD v4:
8-25423441-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.25423441T>C , CM000670.2:g.25423441T>C | GRCh38 |
| NC_000008.10:g.25280957T>C , CM000670.1:g.25280957T>C | GRCh37 |
| NC_000008.9:g.25336874T>C | NCBI36 |
| NG_016457.1:g.6600A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421054.7:c.-1-110A>G MANE Select | ENSP00000391280.2:n.-1-110A>G | |
| ENST00000276414.4:c.-111A>G | ENSP00000276414.4:n.-111A>G | |
| ENST00000421054.6:c.-1-110A>G | ENSP00000391280.2:n.-1-110A>G | |
| NM_000825.3:c.-99A>G | NP_000816.4:n.-99A>G | |
| NM_001083111.1:c.-1-110A>G | NP_001076580.1:n.-1-110A>G | |
| NM_001083111.2:c.-1-110A>G MANE Select | NP_001076580.1:n.-1-110A>G |