Linked Data
ClinVar Variation Id:
555677
ClinVar RCV Id:
RCV000671541
dbSNP Id:
rs372357967
ExAC:
17:7127757 C / T
gnomAD v2:
17-7127757-C-T
gnomAD v3:
17-7224438-C-T
gnomAD v4:
17-7224438-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224438C>T , CM000679.2:g.7224438C>T | GRCh38 |
| NC_000017.10:g.7127757C>T , CM000679.1:g.7127757C>T | GRCh37 |
| NC_000017.9:g.7068481C>T | NCBI36 |
| NG_007975.1:g.9605C>T | |
| NG_008391.2:g.613G>A | |
| NG_033038.1:g.15107G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1606-42C>T MANE Select | ENSP00000349297.5:n.1606-42C>T | |
| ENST00000322910.9:c.*1561-42C>T | ENSP00000325395.5:n.*1561-42C>T | |
| ENST00000350303.9:c.1540-42C>T | ENSP00000344152.5:n.1540-42C>T | |
| ENST00000356839.9:c.1606-42C>T | ENSP00000349297.5:n.1606-42C>T | |
| ENST00000542255.6:c.464-42C>T | ||
| ENST00000543245.6:c.1675-42C>T | ENSP00000438689.2:n.1675-42C>T | |
| ENST00000578319.5:n.145C>T | ||
| ENST00000578711.1:n.934C>T | ||
| ENST00000578809.5:n.178-42C>T | ||
| ENST00000579391.1:n.214-46C>T | ||
| ENST00000579425.5:n.722-42C>T | ||
| ENST00000579546.1:c.345-46C>T | ||
| ENST00000579894.5:n.393-42C>T | ||
| ENST00000582450.1:n.114-42C>T | ||
| ENST00000583074.5:n.227-42C>T | ||
| ENST00000583850.5:n.381-46C>T | ||
| ENST00000583858.5:c.537-42C>T | ||
| ENST00000585203.6:n.797-42C>T | ||
| NM_000018.3:c.1606-42C>T | NP_000009.1:n.1606-42C>T | |
| NM_001033859.2:c.1540-42C>T | NP_001029031.1:n.1540-42C>T | |
| NM_001270447.1:c.1675-42C>T | NP_001257376.1:n.1675-42C>T | |
| NM_001270448.1:c.1378-42C>T | NP_001257377.1:n.1378-42C>T | |
| XM_006721516.2:c.1606-42C>T | XP_006721579.2:n.1606-42C>T | |
| XM_011523829.1:c.1508-46C>T | XP_011522131.1:n.1508-46C>T | |
| XM_011523830.1:c.1508-46C>T | XP_011522132.1:n.1508-46C>T | |
| XR_934021.1:n.1713-46C>T | ||
| XR_934022.1:n.1615-42C>T | ||
| XR_934023.1:n.1615-42C>T | ||
| XM_006721516.3:c.1606-42C>T | XP_006721579.2:n.1606-42C>T | |
| XM_011523829.2:c.1508-46C>T | XP_011522131.1:n.1508-46C>T | |
| XM_011523830.2:c.1508-46C>T | XP_011522132.1:n.1508-46C>T | |
| XM_024450741.1:c.1552C>T | XP_024306509.1:p.Pro518Ser | |
| XR_934021.2:n.1665-46C>T | ||
| XR_934022.2:n.1567-42C>T | ||
| XR_934023.2:n.1567-42C>T | ||
| NM_000018.4:c.1606-42C>T MANE Select | NP_000009.1:n.1606-42C>T | |
| NM_001033859.3:c.1540-42C>T | NP_001029031.1:n.1540-42C>T | |
| NM_001270447.2:c.1675-42C>T | NP_001257376.1:n.1675-42C>T | |
| NM_001270448.2:c.1378-42C>T | NP_001257377.1:n.1378-42C>T |