Linked Data
ClinVar Variation Id:
1077632
ClinVar RCV Id:
RCV001392280
dbSNP Id:
rs1438741226
gnomAD v2:
17-7128040-A-T
gnomAD v3:
17-7224721-A-T
gnomAD v4:
17-7224721-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224721A>T , CM000679.2:g.7224721A>T | GRCh38 |
| NC_000017.10:g.7128040A>T , CM000679.1:g.7128040A>T | GRCh37 |
| NC_000017.9:g.7068764A>T | NCBI36 |
| NG_007975.1:g.9888A>T | |
| NG_008391.2:g.330T>A | |
| NG_033038.1:g.14824T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1751+7A>T MANE Select | ENSP00000349297.5:n.1751+7A>T | |
| ENST00000322910.9:c.*1706+7A>T | ENSP00000325395.5:n.*1706+7A>T | |
| ENST00000350303.9:c.1685+7A>T | ENSP00000344152.5:n.1685+7A>T | |
| ENST00000356839.9:c.1751+7A>T | ENSP00000349297.5:n.1751+7A>T | |
| ENST00000542255.6:c.543A>T | ||
| ENST00000543245.6:c.1820+7A>T | ENSP00000438689.2:n.1820+7A>T | |
| ENST00000578033.1:n.89A>T | ||
| ENST00000578319.5:n.332+7A>T | ||
| ENST00000578711.1:n.1217A>T | ||
| ENST00000578809.5:n.323+7A>T | ||
| ENST00000579425.5:n.867+7A>T | ||
| ENST00000579546.1:c.486+7A>T | ||
| ENST00000583074.5:n.306A>T | ||
| ENST00000583848.5:c.117+7A>T | ENSP00000466487.1:n.117+7A>T | |
| ENST00000583850.5:n.522+7A>T | ||
| ENST00000583858.5:c.682+7A>T | ||
| ENST00000585203.6:n.942+7A>T | ||
| NM_000018.3:c.1751+7A>T | NP_000009.1:n.1751+7A>T | |
| NM_001033859.2:c.1685+7A>T | NP_001029031.1:n.1685+7A>T | |
| NM_001270447.1:c.1820+7A>T | NP_001257376.1:n.1820+7A>T | |
| NM_001270448.1:c.1523+7A>T | NP_001257377.1:n.1523+7A>T | |
| XM_006721516.2:c.1685A>T | XP_006721579.2:p.Glu562Val | |
| XM_011523829.1:c.1583A>T | XP_011522131.1:p.Glu528Val | |
| XM_011523830.1:c.1649+7A>T | XP_011522132.1:n.1649+7A>T | |
| XR_934021.1:n.1854+7A>T | ||
| XR_934022.1:n.1760+7A>T | ||
| XR_934023.1:n.1694A>T | ||
| XM_006721516.3:c.1685A>T | XP_006721579.2:p.Glu562Val | |
| XM_011523829.2:c.1583A>T | XP_011522131.1:p.Glu528Val | |
| XM_011523830.2:c.1649+7A>T | XP_011522132.1:n.1649+7A>T | |
| XM_024450741.1:c.1739+7A>T | XP_024306509.1:n.1739+7A>T | |
| XR_934021.2:n.1806+7A>T | ||
| XR_934022.2:n.1712+7A>T | ||
| XR_934023.2:n.1646A>T | ||
| NM_000018.4:c.1751+7A>T MANE Select | NP_000009.1:n.1751+7A>T | |
| NM_001033859.3:c.1685+7A>T | NP_001029031.1:n.1685+7A>T | |
| NM_001270447.2:c.1820+7A>T | NP_001257376.1:n.1820+7A>T | |
| NM_001270448.2:c.1523+7A>T | NP_001257377.1:n.1523+7A>T |