Linked Data
ClinVar Variation Id:
297776
ClinVar RCV Id:
RCV000305554
dbSNP Id:
rs774270086
gnomAD v2:
1-59042884-G-C
gnomAD v3:
1-58577212-G-C
gnomAD v4:
1-58577212-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58577212G>C , CM000663.2:g.58577212G>C | GRCh38 |
| NC_000001.10:g.59042884G>C , CM000663.1:g.59042884G>C | GRCh37 |
| NC_000001.9:g.58815472G>C | NCBI36 |
| NG_016237.1:g.5283C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.-56C>G MANE Select | ENSP00000360269.2:n.-56C>G | |
| ENST00000371225.3:c.-56C>G | ENSP00000360269.2:n.-56C>G | |
| NM_002353.2:c.-56C>G | NP_002344.2:n.-56C>G | |
| NM_002353.3:c.-56C>G MANE Select | NP_002344.2:n.-56C>G |