Linked Data
ClinVar Variation Id:
388531
dbSNP Id:
rs201231401
ExAC:
2:27693968 G / C
gnomAD v2:
2-27693968-G-C
gnomAD v3:
2-27471101-G-C
gnomAD v4:
2-27471101-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27471101G>C , CM000664.2:g.27471101G>C | GRCh38 |
| NC_000002.11:g.27693968G>C , CM000664.1:g.27693968G>C | GRCh37 |
| NC_000002.10:g.27547472G>C | NCBI36 |
| NG_034068.1:g.23711C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.1525-6C>G MANE Select | ENSP00000260570.3:n.1525-6C>G | |
| ENST00000674701.1:c.*943-6C>G | ENSP00000502275.1:n.*943-6C>G | |
| ENST00000674824.1:c.1462-72C>G | ENSP00000501824.1:n.1462-72C>G | |
| ENST00000674932.1:c.*1188-72C>G | ENSP00000501967.1:n.*1188-72C>G | |
| ENST00000675410.1:c.844-6C>G | ENSP00000502030.1:n.844-6C>G | |
| ENST00000675618.1:n.2095-6C>G | ||
| ENST00000675690.1:c.1525-72C>G | ENSP00000502283.1:n.1525-72C>G | |
| ENST00000675729.1:c.*1088-6C>G | ENSP00000502319.1:n.*1088-6C>G | |
| ENST00000675826.1:n.1125C>G | ||
| ENST00000675963.1:c.*1223-72C>G | ENSP00000502708.1:n.*1223-72C>G | |
| ENST00000676101.1:n.685-6C>G | ||
| ENST00000676119.1:c.*815-6C>G | ENSP00000501701.1:n.*815-6C>G | |
| ENST00000260570.7:c.1525-6C>G | ENSP00000260570.3:n.1525-6C>G | |
| ENST00000463613.1:n.46-6C>G | ||
| ENST00000507184.5:n.1657-6C>G | ||
| ENST00000511842.5:n.1550-6C>G | ||
| NM_015662.2:c.1525-6C>G | NP_056477.1:n.1525-6C>G | |
| XM_005264254.1:c.1525-72C>G | XP_005264311.1:n.1525-72C>G | |
| XM_006711986.2:c.1462-6C>G | XP_006712049.1:n.1462-6C>G | |
| XM_006711987.1:c.1525-6C>G | XP_006712050.1:n.1525-6C>G | |
| XM_011532757.1:c.844-6C>G | XP_011531059.1:n.844-6C>G | |
| XM_011532758.1:c.1525-6C>G | XP_011531060.1:n.1525-6C>G | |
| XM_011532759.1:c.-36-6C>G | XP_011531061.1:n.-36-6C>G | |
| XM_006711986.3:c.1462-6C>G | XP_006712049.1:n.1462-6C>G | |
| XM_011532757.2:c.844-6C>G | XP_011531059.1:n.844-6C>G | |
| XM_011532759.2:c.-36-6C>G | XP_011531061.1:n.-36-6C>G | |
| XM_017003790.1:c.1462-72C>G | XP_016859279.1:n.1462-72C>G | |
| XM_017003791.1:c.844-6C>G | XP_016859280.1:n.844-6C>G | |
| XM_017003792.1:c.1525-6C>G | XP_016859281.1:n.1525-6C>G | |
| XM_017003793.1:c.74+1149C>G | XP_016859282.1:n.74+1149C>G | |
| XM_017003794.1:c.74+1149C>G | XP_016859283.1:n.74+1149C>G | |
| XM_017003795.1:c.-298-6C>G | XP_016859284.1:n.-298-6C>G | |
| XR_001738698.1:n.1580-6C>G | ||
| NM_015662.3:c.1525-6C>G MANE Select | NP_056477.1:n.1525-6C>G |