Linked Data
ClinVar Variation Id:
2929713
ClinVar RCV Id:
RCV003784879
dbSNP Id:
rs760608614
ExAC:
2:26426919 G / C
gnomAD v2:
2-26426919-G-C
gnomAD v3:
2-26204050-G-C
gnomAD v4:
2-26204050-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26204050G>C , CM000664.2:g.26204050G>C | GRCh38 |
| NC_000002.11:g.26426919G>C , CM000664.1:g.26426919G>C | GRCh37 |
| NC_000002.10:g.26280423G>C | NCBI36 |
| NG_007121.1:g.45571C>G | |
| NG_007121.2:g.45572C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1220+12C>G MANE Select | ENSP00000370023.3:n.1220+12C>G | |
| ENST00000492433.2:c.1220+12C>G | ENSP00000438039.2:n.1220+12C>G | |
| ENST00000643057.1:c.*1111+12C>G | ENSP00000493761.1:n.*1111+12C>G | |
| ENST00000643063.1:c.*266+12C>G | ENSP00000495353.1:n.*266+12C>G | |
| ENST00000643233.1:c.*1111+12C>G | ENSP00000493880.1:n.*1111+12C>G | |
| ENST00000644428.1:c.1220+12C>G | ENSP00000495560.1:n.1220+12C>G | |
| ENST00000645274.1:c.1115+12C>G | ENSP00000493996.1:n.1115+12C>G | |
| ENST00000646031.1:c.579+12C>G | ||
| ENST00000646483.1:c.1086+12C>G | ENSP00000496185.1:n.1086+12C>G | |
| ENST00000380649.7:c.1220+12C>G | ENSP00000370023.3:n.1220+12C>G | |
| NM_000182.4:c.1220+12C>G | NP_000173.2:n.1220+12C>G | |
| NM_000182.5:c.1220+12C>G MANE Select | NP_000173.2:n.1220+12C>G |