Linked Data
ClinVar Variation Id:
337973
ClinVar RCV Id:
RCV000396095
dbSNP Id:
rs752774218
ExAC:
20:25062907 G / C
gnomAD v2:
20-25062907-G-C
gnomAD v4:
20-25082271-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25082271G>C , CM000682.2:g.25082271G>C | GRCh38 |
| NC_000020.10:g.25062907G>C , CM000682.1:g.25062907G>C | GRCh37 |
| NC_000020.9:g.25010907G>C | NCBI36 |
| NG_008101.1:g.4861C>G | |
| NG_008101.2:g.4861C>G | |
| NG_008101.3:g.4911C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376709.8:c.-175C>G | ENSP00000365899.3:n.-175C>G | |
| NM_001256271.1:c.-175C>G | NP_001243200.1:n.-175C>G | |
| NM_001256272.1:c.-175C>G | NP_001243201.1:n.-175C>G | |
| NM_014588.5:c.-175C>G | NP_055403.2:n.-175C>G | |
| NM_199425.2:c.-175C>G | NP_955457.1:n.-175C>G | |
| NR_045948.1:n.109C>G | ||
| NR_045951.1:n.109C>G |