Linked Data
ClinVar Variation Id:
333103
ClinVar RCV Id:
RCV000274486
dbSNP Id:
rs772852972
gnomAD v2:
2-189897128-G-C
gnomAD v3:
2-189032402-G-C
gnomAD v4:
2-189032402-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189032402G>C , CM000664.2:g.189032402G>C | GRCh38 |
| NC_000002.11:g.189897128G>C , CM000664.1:g.189897128G>C | GRCh37 |
| NC_000002.10:g.189605373G>C | NCBI36 |
| NG_011799.1:g.152478C>G | |
| NG_011799.2:g.152478C>G | |
| NG_011799.3:g.197900C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.*1668C>G MANE Select | ENSP00000364000.3:n.*1668C>G | |
| ENST00000374866.7:c.*1668C>G | ENSP00000364000.3:n.*1668C>G | |
| ENST00000618828.1:c.*1668C>G | ENSP00000482184.1:n.*1668C>G | |
| NM_000393.3:c.*1668C>G | NP_000384.2:n.*1668C>G | |
| NM_000393.4:c.*1668C>G | NP_000384.2:n.*1668C>G | |
| NM_000393.5:c.*1668C>G MANE Select | NP_000384.2:n.*1668C>G |