Linked Data
ClinVar Variation Id:
752946
ClinVar RCV Id:
RCV001418477
dbSNP Id:
rs1597539259
gnomAD v4:
17-7224646-A-G
MyVariant Identifiers:
chr17:g.7127965A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224646A>G , CM000679.2:g.7224646A>G | GRCh38 |
| NC_000017.10:g.7127965A>G , CM000679.1:g.7127965A>G | GRCh37 |
| NC_000017.9:g.7068689A>G | NCBI36 |
| NG_007975.1:g.9813A>G | |
| NG_008391.2:g.405T>C | |
| NG_033038.1:g.14899T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1683A>G MANE Select | ENSP00000349297.5:p.Glu561= | |
| ENST00000322910.9:c.*1638A>G | ENSP00000325395.5:n.*1638A>G | |
| ENST00000350303.9:c.1617A>G | ENSP00000344152.5:p.Glu539= | |
| ENST00000356839.9:c.1683A>G | ENSP00000349297.5:p.Glu561= | |
| ENST00000542255.6:c.537-69A>G | ||
| ENST00000543245.6:c.1752A>G | ENSP00000438689.2:p.Glu584= | |
| ENST00000578033.1:n.14A>G | ||
| ENST00000578319.5:n.264A>G | ||
| ENST00000578711.1:n.1142A>G | ||
| ENST00000578809.5:n.255A>G | ||
| ENST00000579425.5:n.799A>G | ||
| ENST00000579546.1:c.418A>G | ||
| ENST00000582450.1:n.280A>G | ||
| ENST00000583074.5:n.300-69A>G | ||
| ENST00000583848.5:c.65-16A>G | ENSP00000466487.1:n.65-16A>G | |
| ENST00000583850.5:n.454A>G | ||
| ENST00000583858.5:c.614A>G | ||
| ENST00000585203.6:n.874A>G | ||
| NM_000018.3:c.1683A>G | NP_000009.1:p.Glu561= | |
| NM_001033859.2:c.1617A>G | NP_001029031.1:p.Glu539= | |
| NM_001270447.1:c.1752A>G | NP_001257376.1:p.Glu584= | |
| NM_001270448.1:c.1455A>G | NP_001257377.1:p.Glu485= | |
| XM_006721516.2:c.1679-69A>G | XP_006721579.2:n.1679-69A>G | |
| XM_011523829.1:c.1577-69A>G | XP_011522131.1:n.1577-69A>G | |
| XM_011523830.1:c.1581A>G | XP_011522132.1:p.Glu527= | |
| XR_934021.1:n.1786A>G | ||
| XR_934022.1:n.1692A>G | ||
| XR_934023.1:n.1688-69A>G | ||
| XM_006721516.3:c.1679-69A>G | XP_006721579.2:n.1679-69A>G | |
| XM_011523829.2:c.1577-69A>G | XP_011522131.1:n.1577-69A>G | |
| XM_011523830.2:c.1581A>G | XP_011522132.1:p.Glu527= | |
| XM_024450741.1:c.1671A>G | XP_024306509.1:p.Glu557= | |
| XR_934021.2:n.1738A>G | ||
| XR_934022.2:n.1644A>G | ||
| XR_934023.2:n.1640-69A>G | ||
| NM_000018.4:c.1683A>G MANE Select | NP_000009.1:p.Glu561= | |
| NM_001033859.3:c.1617A>G | NP_001029031.1:p.Glu539= | |
| NM_001270447.2:c.1752A>G | NP_001257376.1:p.Glu584= | |
| NM_001270448.2:c.1455A>G | NP_001257377.1:p.Glu485= |