Linked Data
ClinVar Variation Id:
298197
ClinVar RCV Id:
RCV000268419
dbSNP Id:
rs368663464
gnomAD v2:
1-93297610-C-G
gnomAD v3:
1-92832053-C-G
gnomAD v4:
1-92832053-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92832053C>G , CM000663.2:g.92832053C>G | GRCh38 |
| NC_000001.10:g.93297610C>G , CM000663.1:g.93297610C>G | GRCh37 |
| NC_000001.9:g.93070198C>G | NCBI36 |
| NG_011779.1:g.5017C>G | |
| NG_033051.1:g.134470G>C | |
| NG_011779.2:g.5068C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370321.8:c.-62C>G MANE Select | ENSP00000359345.2:n.-62C>G | |
| ENST00000645300.1:c.-142C>G | ENSP00000495589.1:n.-142C>G | |
| ENST00000370321.7:c.-62C>G | ENSP00000359345.2:n.-62C>G | |
| NM_000969.3:c.-62C>G | NP_000960.2:n.-62C>G | |
| NM_000969.5:c.-62C>G MANE Select | NP_000960.2:n.-62C>G | |
| NR_146333.1:n.68C>G |