Linked Data
ClinVar Variation Id:
1111332
dbSNP Id:
rs1597540282
MyVariant Identifiers:
chr17:g.7128164C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224845C>G , CM000679.2:g.7224845C>G | GRCh38 |
| NC_000017.10:g.7128164C>G , CM000679.1:g.7128164C>G | GRCh37 |
| NC_000017.9:g.7068888C>G | NCBI36 |
| NG_007975.1:g.10012C>G | |
| NG_008391.2:g.206G>C | |
| NG_033038.1:g.14700G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1788C>G MANE Select | ENSP00000349297.5:p.Ala596= | |
| ENST00000322910.9:c.*1743C>G | ENSP00000325395.5:n.*1743C>G | |
| ENST00000350303.9:c.1722C>G | ENSP00000344152.5:p.Ala574= | |
| ENST00000356839.9:c.1788C>G | ENSP00000349297.5:p.Ala596= | |
| ENST00000542255.6:c.667C>G | ||
| ENST00000543245.6:c.1857C>G | ENSP00000438689.2:p.Ala619= | |
| ENST00000578033.1:n.213C>G | ||
| ENST00000578319.5:n.369C>G | ||
| ENST00000578711.1:n.1341C>G | ||
| ENST00000578809.5:n.360C>G | ||
| ENST00000579425.5:n.904C>G | ||
| ENST00000579546.1:c.523C>G | ||
| ENST00000583848.5:c.154C>G | ENSP00000466487.1:n.154C>G | |
| ENST00000583850.5:n.559C>G | ||
| ENST00000583858.5:c.719C>G | ||
| NM_000018.3:c.1788C>G | NP_000009.1:p.Ala596= | |
| NM_001033859.2:c.1722C>G | NP_001029031.1:p.Ala574= | |
| NM_001270447.1:c.1857C>G | NP_001257376.1:p.Ala619= | |
| NM_001270448.1:c.1560C>G | NP_001257377.1:p.Ala520= | |
| XM_006721516.2:c.1809C>G | XP_006721579.2:p.Ala603= | |
| XM_011523829.1:c.1707C>G | XP_011522131.1:p.Ala569= | |
| XM_011523830.1:c.1686C>G | XP_011522132.1:p.Ala562= | |
| XR_934021.1:n.1891C>G | ||
| XR_934022.1:n.1797C>G | ||
| XR_934023.1:n.1818C>G | ||
| XM_006721516.3:c.1809C>G | XP_006721579.2:p.Ala603= | |
| XM_011523829.2:c.1707C>G | XP_011522131.1:p.Ala569= | |
| XM_011523830.2:c.1686C>G | XP_011522132.1:p.Ala562= | |
| XM_024450741.1:c.1776C>G | XP_024306509.1:p.Ala592= | |
| XR_934021.2:n.1843C>G | ||
| XR_934022.2:n.1749C>G | ||
| XR_934023.2:n.1770C>G | ||
| NM_000018.4:c.1788C>G MANE Select | NP_000009.1:p.Ala596= | |
| NM_001033859.3:c.1722C>G | NP_001029031.1:p.Ala574= | |
| NM_001270447.2:c.1857C>G | NP_001257376.1:p.Ala619= | |
| NM_001270448.2:c.1560C>G | NP_001257377.1:p.Ala520= |