Linked Data
ClinVar Variation Id:
371022
ClinVar RCV Id:
RCV001836808
dbSNP Id:
rs1057516945
gnomAD v4:
11-6616973-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616973A>C , CM000673.2:g.6616973A>C | GRCh38 |
| NC_000011.9:g.6638204A>C , CM000673.1:g.6638204A>C | GRCh37 |
| NC_000011.8:g.6594780A>C | NCBI36 |
| NG_008653.1:g.7489T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682424.1:c.573+2T>G | ENSP00000507321.1:n.573+2T>G | |
| ENST00000299427.12:c.687+2T>G MANE Select | ENSP00000299427.6:n.687+2T>G | |
| ENST00000436873.7:c.312+328T>G | ||
| ENST00000524788.2:n.1846+2T>G | ||
| ENST00000524903.2:n.1962+2T>G | ||
| ENST00000528807.2:n.343+2T>G | ||
| ENST00000530040.2:n.479+386T>G | ||
| ENST00000533371.6:c.-43+2T>G | ENSP00000437066.1:n.-43+2T>G | |
| ENST00000642892.1:c.-43+2T>G | ENSP00000494165.1:n.-43+2T>G | |
| ENST00000643439.1:c.*427+2T>G | ENSP00000495849.1:n.*427+2T>G | |
| ENST00000643479.1:n.716+2T>G | ||
| ENST00000643516.1:c.395+328T>G | ||
| ENST00000644151.1:n.2126+2T>G | ||
| ENST00000644218.1:c.687+2T>G | ENSP00000493574.1:n.687+2T>G | |
| ENST00000644683.1:c.*140+2T>G | ENSP00000494085.1:n.*140+2T>G | |
| ENST00000644810.1:c.408+2T>G | ENSP00000495895.1:n.408+2T>G | |
| ENST00000644831.1:n.863+2T>G | ||
| ENST00000644933.1:c.-43+2T>G | ENSP00000496133.1:n.-43+2T>G | |
| ENST00000645020.1:n.1864T>G | ||
| ENST00000645285.1:c.-43+2T>G | ENSP00000495058.1:n.-43+2T>G | |
| ENST00000645331.1:n.1053+2T>G | ||
| ENST00000645620.1:c.-43+2T>G | ENSP00000493657.1:n.-43+2T>G | |
| ENST00000646777.1:n.863+2T>G | ||
| ENST00000647016.1:n.1167+2T>G | ||
| ENST00000647152.1:c.-43+2T>G | ENSP00000495893.1:n.-43+2T>G | |
| ENST00000647209.1:c.*556+2T>G | ENSP00000495558.1:n.*556+2T>G | |
| ENST00000647346.1:n.1707+2T>G | ||
| ENST00000299427.10:c.687+2T>G | ENSP00000299427.6:n.687+2T>G | |
| ENST00000436873.6:c.450+386T>G | ENSP00000398136.2:n.450+386T>G | |
| ENST00000524788.1:n.387+2T>G | ||
| ENST00000528807.1:n.237+2T>G | ||
| ENST00000533371.5:c.-43+2T>G | ENSP00000437066.1:n.-43+2T>G | |
| ENST00000611494.4:c.687+2T>G | ENSP00000484546.1:n.687+2T>G | |
| NM_000391.3:c.687+2T>G | NP_000382.3:n.687+2T>G | |
| NM_000391.4:c.687+2T>G MANE Select | NP_000382.3:n.687+2T>G |