Linked Data
ClinVar Variation Id:
388275
ClinVar RCV Id:
RCV000426136
dbSNP Id:
rs753568920
ExAC:
2:55920983 G / C
gnomAD v2:
2-55920983-G-C
gnomAD v3:
2-55693848-G-C
gnomAD v4:
2-55693848-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55693848G>C , CM000664.2:g.55693848G>C | GRCh38 |
| NC_000002.11:g.55920983G>C , CM000664.1:g.55920983G>C | GRCh37 |
| NC_000002.10:g.55774487G>C | NCBI36 |
| NG_033012.1:g.5063C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429805.1:c.-25C>G | ENSP00000411994.1:n.-25C>G | |
| ENST00000447944.6:c.-25C>G | ENSP00000400646.2:n.-25C>G | |
| NM_033109.4:c.-25C>G | NP_149100.2:n.-25C>G | |
| XM_011533142.1:c.-25C>G | XP_011531444.1:n.-25C>G | |
| XM_017005172.1:c.-204C>G | XP_016860661.1:n.-204C>G | |
| XR_001739010.1:n.6C>G |