Linked Data
ClinVar Variation Id:
1939115
ClinVar RCV Id:
RCV002666649
dbSNP Id:
rs776950686
gnomAD v4:
7-23167820-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23167820C>A , CM000669.2:g.23167820C>A | GRCh38 |
| NC_000007.13:g.23207439C>A , CM000669.1:g.23207439C>A | GRCh37 |
| NC_000007.12:g.23173964C>A | NCBI36 |
| NG_016983.1:g.67087C>A | |
| NG_016983.2:g.67087C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339077.10:c.1178-16C>A MANE Select | ENSP00000343273.4:n.1178-16C>A | |
| ENST00000339077.9:c.1178-16C>A | ENSP00000343273.4:n.1178-16C>A | |
| ENST00000409689.5:c.1034-16C>A | ENSP00000386263.1:n.1034-16C>A | |
| ENST00000469576.1:n.65-16C>A | ||
| ENST00000521082.5:c.*1186-16C>A | ENSP00000430351.1:n.*1186-16C>A | |
| NM_001031710.2:c.1178-16C>A | NP_001026880.2:n.1178-16C>A | |
| NM_018846.4:c.1034-16C>A | NP_061334.4:n.1034-16C>A | |
| NR_033328.1:n.1602-16C>A | ||
| XM_006715753.1:c.1217-16C>A | XP_006715816.1:n.1217-16C>A | |
| XM_006715754.1:c.1151-16C>A | XP_006715817.1:n.1151-16C>A | |
| XM_006715755.1:c.1151-16C>A | XP_006715818.1:n.1151-16C>A | |
| XM_006715756.1:c.1073-16C>A | XP_006715819.1:n.1073-16C>A | |
| XM_006715753.3:c.1217-16C>A | XP_006715816.1:n.1217-16C>A | |
| XM_006715754.3:c.1151-16C>A | XP_006715817.1:n.1151-16C>A | |
| XM_006715755.3:c.1151-16C>A | XP_006715818.1:n.1151-16C>A | |
| XM_006715756.3:c.1073-16C>A | XP_006715819.1:n.1073-16C>A | |
| XM_017012439.2:c.1112-16C>A | XP_016867928.1:n.1112-16C>A | |
| NM_001031710.3:c.1178-16C>A MANE Select | NP_001026880.2:n.1178-16C>A | |
| NM_018846.5:c.1034-16C>A | NP_061334.4:n.1034-16C>A | |
| NR_033328.2:n.1551-16C>A |