Linked Data
ClinVar Variation Id:
297453
ClinVar RCV Id:
RCV000343867
dbSNP Id:
rs489676
gnomAD v2:
1-45452227-G-C
gnomAD v3:
1-44986555-G-C
gnomAD v4:
1-44986555-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44986555G>C , CM000663.2:g.44986555G>C | GRCh38 |
| NC_000001.10:g.45452227G>C , CM000663.1:g.45452227G>C | GRCh37 |
| NC_000001.9:g.45224814G>C | NCBI36 |
| NG_015864.1:g.5135C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360403.7:c.-72C>G MANE Select | ENSP00000353575.2:n.-72C>G | |
| ENST00000360403.6:c.-72C>G | ENSP00000353575.2:n.-72C>G | |
| ENST00000372182.6:n.42C>G | ||
| ENST00000372183.7:c.-72C>G | ENSP00000361257.3:n.-72C>G | |
| ENST00000477953.5:n.32C>G | ||
| ENST00000480675.5:c.-72C>G | ENSP00000485842.1:n.-72C>G | |
| ENST00000487532.5:n.41C>G | ||
| ENST00000497010.1:n.41C>G | ||
| ENST00000620860.4:c.-72C>G | ENSP00000483996.1:n.-72C>G | |
| NM_001166588.2:c.-72C>G | NP_001160060.1:n.-72C>G | |
| NM_001261418.1:c.-72C>G | NP_001248347.1:n.-72C>G | |
| NM_020365.4:c.-72C>G | NP_065098.1:n.-72C>G | |
| XM_011542396.1:c.-72C>G | XP_011540698.1:n.-72C>G | |
| XM_017002745.2:c.-72C>G | XP_016858234.1:n.-72C>G | |
| XM_017002746.1:c.-526C>G | XP_016858235.1:n.-526C>G | |
| XM_017002747.1:c.-526C>G | XP_016858236.1:n.-526C>G | |
| NM_020365.5:c.-72C>G MANE Select | NP_065098.1:n.-72C>G | |
| NM_001166588.3:c.-72C>G | NP_001160060.1:n.-72C>G | |
| NM_001261418.2:c.-72C>G | NP_001248347.1:n.-72C>G |