Linked Data
ClinVar Variation Id:
297775
ClinVar RCV Id:
RCV000393929
dbSNP Id:
rs774270086
gnomAD v3:
1-58577212-G-A
gnomAD v4:
1-58577212-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58577212G>A , CM000663.2:g.58577212G>A | GRCh38 |
| NC_000001.10:g.59042884G>A , CM000663.1:g.59042884G>A | GRCh37 |
| NC_000001.9:g.58815472G>A | NCBI36 |
| NG_016237.1:g.5283C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.-56C>T MANE Select | ENSP00000360269.2:n.-56C>T | |
| ENST00000371225.3:c.-56C>T | ENSP00000360269.2:n.-56C>T | |
| NM_002353.2:c.-56C>T | NP_002344.2:n.-56C>T | |
| NM_002353.3:c.-56C>T MANE Select | NP_002344.2:n.-56C>T |