Linked Data
ClinVar Variation Id:
2771342
ClinVar RCV Id:
RCV003574220
dbSNP Id:
rs1843130316
gnomAD v4:
10-94554266-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94554266A>G , CM000672.2:g.94554266A>G | GRCh38 |
| NC_000010.10:g.96314023A>G , CM000672.1:g.96314023A>G | GRCh37 |
| NC_000010.9:g.96304013A>G | NCBI36 |
| NG_047057.1:g.13500A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371332.9:c.276+18A>G | ENSP00000360383.6:n.276+18A>G | |
| ENST00000394036.6:c.276+18A>G | ENSP00000377601.2:n.276+18A>G | |
| ENST00000394045.6:c.276+18A>G | ENSP00000377609.1:n.276+18A>G | |
| ENST00000419900.6:c.228+18A>G | ENSP00000409945.2:n.228+18A>G | |
| ENST00000475263.2:n.276+18A>G | ||
| ENST00000630929.3:c.276+18A>G | ENSP00000485823.1:n.276+18A>G | |
| ENST00000698650.1:n.245+18A>G | ||
| ENST00000698651.1:n.410+18A>G | ||
| ENST00000698673.1:c.*176+18A>G | ENSP00000513870.1:n.*176+18A>G | |
| ENST00000698675.1:c.276+18A>G | ENSP00000513940.1:n.276+18A>G | |
| ENST00000698799.1:c.276+18A>G | ENSP00000513942.1:n.276+18A>G | |
| ENST00000698800.1:c.276+18A>G | ENSP00000513943.1:n.276+18A>G | |
| ENST00000698830.1:c.276+18A>G | ENSP00000513967.1:n.276+18A>G | |
| ENST00000348459.10:c.276+18A>G MANE Select | ENSP00000239027.7:n.276+18A>G | |
| ENST00000239026.10:c.-40+3270A>G | ENSP00000239026.7:n.-40+3270A>G | |
| ENST00000348459.9:c.276+18A>G | ENSP00000239027.7:n.276+18A>G | |
| ENST00000371332.8:c.-17+3270A>G | ENSP00000360383.5:n.-17+3270A>G | |
| ENST00000394036.5:c.276+18A>G | ENSP00000377601.2:n.276+18A>G | |
| ENST00000394045.5:c.276+18A>G | ENSP00000377609.1:n.276+18A>G | |
| ENST00000419900.5:c.228+18A>G | ENSP00000409945.1:n.228+18A>G | |
| ENST00000462057.2:n.125+18A>G | ||
| ENST00000630929.2:c.276+18A>G | ENSP00000485823.1:n.276+18A>G | |
| NM_001289067.1:c.276+18A>G | NP_001275996.1:n.276+18A>G | |
| NM_001289068.1:c.228+18A>G | NP_001275997.1:n.228+18A>G | |
| NM_001289069.1:c.276+18A>G | NP_001275998.1:n.276+18A>G | |
| NM_001289070.1:c.276+18A>G | NP_001275999.1:n.276+18A>G | |
| NM_001289071.1:c.-141+18A>G | NP_001276000.1:n.-141+18A>G | |
| NM_001289072.1:c.276+18A>G | NP_001276001.1:n.276+18A>G | |
| NM_001289073.1:c.-74+18A>G | NP_001276002.1:n.-74+18A>G | |
| NM_001289074.1:c.-727+18A>G | NP_001276003.1:n.-727+18A>G | |
| NM_001289075.1:c.-746+18A>G | NP_001276004.1:n.-746+18A>G | |
| NM_018063.4:c.276+18A>G | NP_060533.2:n.276+18A>G | |
| XM_024447968.1:c.276+18A>G | XP_024303736.1:n.276+18A>G | |
| NM_018063.5:c.276+18A>G MANE Select | NP_060533.2:n.276+18A>G | |
| NM_001289068.2:c.228+18A>G | NP_001275997.1:n.228+18A>G | |
| NM_001289069.2:c.276+18A>G | NP_001275998.1:n.276+18A>G | |
| NM_001289071.2:c.-141+18A>G | NP_001276000.1:n.-141+18A>G | |
| NM_001289072.2:c.276+18A>G | NP_001276001.1:n.276+18A>G | |
| NM_001289073.2:c.-74+18A>G | NP_001276002.1:n.-74+18A>G | |
| NM_001289074.2:c.-727+18A>G | NP_001276003.1:n.-727+18A>G | |
| NM_001289075.2:c.-746+18A>G | NP_001276004.1:n.-746+18A>G | |
| NM_001289067.2:c.276+18A>G | NP_001275996.1:n.276+18A>G | |
| NM_001289070.2:c.276+18A>G | NP_001275999.1:n.276+18A>G |