Linked Data
ClinVar Variation Id:
203440
ClinVar RCV Id:
RCV000185600
dbSNP Id:
rs748112833
ExAC:
12:64891767 G / A
gnomAD v2:
12-64891767-G-A
gnomAD v4:
12-64497987-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64497987G>A , CM000674.2:g.64497987G>A | GRCh38 |
| NC_000012.11:g.64891767G>A , CM000674.1:g.64891767G>A | GRCh37 |
| NC_000012.10:g.63178034G>A | NCBI36 |
| NG_046906.1:g.50928G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331710.10:c.2086G>A MANE Select | ENSP00000329967.5:p.Glu696Lys | |
| ENST00000545392.2:n.992G>A | ||
| ENST00000650708.1:c.2123G>A | ||
| ENST00000650762.1:c.1828G>A | ENSP00000498758.1:p.Glu610Lys | |
| ENST00000650786.1:c.*2231G>A | ENSP00000498280.1:n.*2231G>A | |
| ENST00000650790.1:c.2086G>A | ENSP00000498995.1:p.Glu696Lys | |
| ENST00000650997.1:c.2086G>A | ENSP00000498341.1:p.Glu696Lys | |
| ENST00000651014.1:c.1930G>A | ENSP00000498885.1:p.Glu644Lys | |
| ENST00000651262.1:c.*353G>A | ENSP00000498461.1:n.*353G>A | |
| ENST00000651878.1:c.*1570G>A | ENSP00000499077.1:n.*1570G>A | |
| ENST00000652537.1:c.*466G>A | ENSP00000499102.1:n.*466G>A | |
| ENST00000652657.1:c.2066+233G>A | ENSP00000498887.1:n.2066+233G>A | |
| ENST00000676587.1:c.80-3343G>A | ||
| ENST00000676593.1:c.20G>A | ||
| ENST00000676654.1:n.2428G>A | ||
| ENST00000676684.1:n.2806G>A | ||
| ENST00000676809.1:c.*775G>A | ENSP00000504298.1:n.*775G>A | |
| ENST00000676912.1:c.1930G>A | ENSP00000503567.1:p.Glu644Lys | |
| ENST00000676930.1:c.1738G>A | ENSP00000502899.1:p.Glu580Lys | |
| ENST00000677313.1:c.20G>A | ||
| ENST00000677499.1:c.*462G>A | ENSP00000502875.1:n.*462G>A | |
| ENST00000677632.1:c.2071G>A | ENSP00000504586.1:p.Glu691Lys | |
| ENST00000677641.1:c.2083G>A | ENSP00000504637.1:p.Glu695Lys | |
| ENST00000677686.1:n.5155G>A | ||
| ENST00000677831.1:c.*466G>A | ENSP00000503760.1:n.*466G>A | |
| ENST00000678180.1:c.1984G>A | ENSP00000504132.1:p.Glu662Lys | |
| ENST00000678197.1:n.2069G>A | ||
| ENST00000331710.9:c.2086G>A | ENSP00000329967.5:p.Glu696Lys | |
| NM_013254.3:c.2086G>A | NP_037386.1:p.Glu696Lys | |
| XM_005268809.1:c.2086G>A | XP_005268866.1:p.Glu696Lys | |
| XM_005268810.1:c.2086G>A | XP_005268867.1:p.Glu696Lys | |
| XR_001748674.2:n.2308G>A | ||
| NM_013254.4:c.2086G>A MANE Select | NP_037386.1:p.Glu696Lys |