Linked Data
ClinVar Variation Id:
449196
dbSNP Id:
rs199608505
ExAC:
8:68031052 G / A
gnomAD v2:
8-68031052-G-A
gnomAD v3:
8-67118817-G-A
gnomAD v4:
8-67118817-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67118817G>A , CM000670.2:g.67118817G>A | GRCh38 |
| NC_000008.10:g.68031052G>A , CM000670.1:g.68031052G>A | GRCh37 |
| NC_000008.9:g.68193606G>A | NCBI36 |
| NG_034100.1:g.59450G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.1759G>A | ENSP00000262210.6:p.Val587Ile | |
| ENST00000674993.1:c.1783G>A | ENSP00000502454.1:p.Val595Ile | |
| ENST00000675306.2:c.1570G>A | ENSP00000502421.1:p.Val524Ile | |
| ENST00000675820.1:c.*1484G>A | ENSP00000501959.1:n.*1484G>A | |
| ENST00000675869.1:c.1651G>A | ENSP00000502747.1:p.Val551Ile | |
| ENST00000675955.1:c.1612G>A | ENSP00000501676.1:p.Val538Ile | |
| ENST00000676113.1:c.1651G>A | ENSP00000501645.1:p.Val551Ile | |
| ENST00000676317.1:c.1678G>A | ENSP00000502047.1:p.Val560Ile | |
| ENST00000676471.1:c.1579G>A | ENSP00000503711.1:p.Val527Ile | |
| ENST00000676534.1:n.4619G>A | ||
| ENST00000676567.1:c.*470G>A | ENSP00000503427.1:n.*470G>A | |
| ENST00000676573.1:c.1147G>A | ENSP00000504532.1:p.Val383Ile | |
| ENST00000676605.1:c.1801G>A | ENSP00000503605.1:p.Val601Ile | |
| ENST00000676695.1:c.1267G>A | ENSP00000503292.1:p.Val423Ile | |
| ENST00000676697.1:n.2454G>A | ||
| ENST00000676847.1:c.1672G>A | ENSP00000503336.1:p.Val558Ile | |
| ENST00000676858.1:c.1564G>A | ENSP00000502925.1:p.Val522Ile | |
| ENST00000676882.1:c.1579G>A | ENSP00000504342.1:p.Val527Ile | |
| ENST00000677009.1:c.1678G>A | ENSP00000503297.1:p.Val560Ile | |
| ENST00000677052.1:n.1191G>A | ||
| ENST00000677070.1:c.1360G>A | ENSP00000503014.1:p.Val454Ile | |
| ENST00000677256.1:c.*1412G>A | ENSP00000504102.1:n.*1412G>A | |
| ENST00000677430.1:c.1612G>A | ENSP00000504177.1:p.Val538Ile | |
| ENST00000677455.1:n.1719G>A | ||
| ENST00000677473.1:c.1621G>A | ENSP00000503534.1:p.Val541Ile | |
| ENST00000677592.1:c.1660G>A | ENSP00000504516.1:p.Val554Ile | |
| ENST00000677619.1:c.1039G>A | ENSP00000504522.1:p.Val347Ile | |
| ENST00000677836.1:c.1283G>A | ENSP00000504345.1:n.1283G>A | |
| ENST00000677845.1:c.*64G>A | ENSP00000503524.1:n.*64G>A | |
| ENST00000677855.1:c.1267G>A | ENSP00000504757.1:p.Val423Ile | |
| ENST00000678017.1:c.697G>A | ENSP00000504394.1:p.Val233Ile | |
| ENST00000678138.1:n.1937G>A | ||
| ENST00000678156.1:n.1333G>A | ||
| ENST00000678216.1:n.1285G>A | ||
| ENST00000678318.1:c.1228G>A | ENSP00000503690.1:p.Val410Ile | |
| ENST00000678345.1:c.406G>A | ENSP00000503668.1:p.Val136Ile | |
| ENST00000678362.1:c.*470G>A | ENSP00000504317.1:n.*470G>A | |
| ENST00000678444.1:c.1377G>A | ENSP00000503879.1:n.1377G>A | |
| ENST00000678542.1:c.1801G>A | ENSP00000503878.1:p.Val601Ile | |
| ENST00000678553.1:c.1621G>A | ENSP00000503747.1:p.Val541Ile | |
| ENST00000678616.1:c.1693G>A MANE Select | ENSP00000504733.1:p.Val565Ile | |
| ENST00000678645.1:c.1570G>A | ENSP00000504031.1:p.Val524Ile | |
| ENST00000678728.1:c.*470G>A | ENSP00000504830.1:n.*470G>A | |
| ENST00000678747.1:c.1120G>A | ENSP00000503390.1:p.Val374Ile | |
| ENST00000678807.1:n.876G>A | ||
| ENST00000678821.1:n.2980G>A | ||
| ENST00000679042.1:n.2518G>A | ||
| ENST00000679112.1:c.*1592G>A | ENSP00000503739.1:n.*1592G>A | |
| ENST00000679226.1:c.1570G>A | ENSP00000503601.1:p.Val524Ile | |
| ENST00000679274.1:n.617G>A | ||
| ENST00000262210.9:c.1678G>A | ENSP00000262210.5:p.Val560Ile | |
| ENST00000519163.6:c.*1872G>A | ENSP00000428694.1:n.*1872G>A | |
| ENST00000519668.1:c.796G>A | ENSP00000430092.1:p.Val266Ile | |
| NM_001291339.1:c.796G>A | NP_001278268.1:p.Val266Ile | |
| NM_024790.6:c.1678G>A | NP_079066.5:p.Val560Ile | |
| XM_005251305.3:c.1921G>A | XP_005251362.2:p.Val641Ile | |
| XM_006716474.2:c.1921G>A | XP_006716537.2:p.Val641Ile | |
| XM_006716477.2:c.1390G>A | XP_006716540.2:p.Val464Ile | |
| XM_011517598.1:c.1963G>A | XP_011515900.1:p.Val655Ile | |
| XM_011517599.1:c.1939G>A | XP_011515901.1:p.Val647Ile | |
| XM_011517600.1:c.1897G>A | XP_011515902.1:p.Val633Ile | |
| XM_011517601.1:c.1858G>A | XP_011515903.1:p.Val620Ile | |
| XM_011517602.1:c.1816G>A | XP_011515904.1:p.Val606Ile | |
| XM_011517603.1:c.1717G>A | XP_011515905.1:p.Val573Ile | |
| XM_011517604.1:c.1717G>A | XP_011515906.1:p.Val573Ile | |
| XM_011517605.1:c.1717G>A | XP_011515907.1:p.Val573Ile | |
| XM_011517606.1:c.1693G>A | XP_011515908.1:p.Val565Ile | |
| XM_011517607.1:c.1693G>A | XP_011515909.1:p.Val565Ile | |
| XM_011517608.1:c.1612G>A | XP_011515910.1:p.Val538Ile | |
| XM_011517609.1:c.838G>A | XP_011515911.1:p.Val280Ile | |
| XM_011517610.1:c.358G>A | XP_011515912.1:p.Val120Ile | |
| NM_001363131.1:c.1612G>A | NP_001350060.1:p.Val538Ile | |
| NM_001363132.1:c.1651G>A | NP_001350061.1:p.Val551Ile | |
| NM_001363133.1:c.1570G>A | NP_001350062.1:p.Val524Ile | |
| NM_001364869.1:c.1759G>A | NP_001351798.1:p.Val587Ile | |
| NM_001364870.1:c.1579G>A | NP_001351799.1:p.Val527Ile | |
| XM_005251305.4:c.1921G>A | XP_005251362.2:p.Val641Ile | |
| XM_006716474.3:c.1921G>A | XP_006716537.2:p.Val641Ile | |
| XM_006716477.3:c.1390G>A | XP_006716540.2:p.Val464Ile | |
| XM_011517598.2:c.1963G>A | XP_011515900.1:p.Val655Ile | |
| XM_011517599.2:c.1939G>A | XP_011515901.1:p.Val647Ile | |
| XM_011517600.2:c.1897G>A | XP_011515902.1:p.Val633Ile | |
| XM_011517601.2:c.1858G>A | XP_011515903.1:p.Val620Ile | |
| XM_011517602.2:c.1816G>A | XP_011515904.1:p.Val606Ile | |
| XM_011517603.2:c.1717G>A | XP_011515905.1:p.Val573Ile | |
| XM_011517607.2:c.1693G>A | XP_011515909.1:p.Val565Ile | |
| XM_011517609.2:c.838G>A | XP_011515911.1:p.Val280Ile | |
| XM_017013847.2:c.1822G>A | XP_016869336.1:p.Val608Ile | |
| XM_017013848.2:c.1798G>A | XP_016869337.1:p.Val600Ile | |
| XM_017013849.2:c.1759G>A | XP_016869338.1:p.Val587Ile | |
| XM_017013850.2:c.1717G>A | XP_016869339.1:p.Val573Ile | |
| XM_017013851.2:c.1570G>A | XP_016869340.1:p.Val524Ile | |
| XM_017013852.2:c.1717G>A | XP_016869341.1:p.Val573Ile | |
| XM_017013854.2:c.1366G>A | XP_016869343.1:p.Val456Ile | |
| XM_017013855.2:c.1285G>A | XP_016869344.1:p.Val429Ile | |
| XM_017013856.2:c.1039G>A | XP_016869345.1:p.Val347Ile | |
| XM_017013858.2:c.358G>A | XP_016869347.1:p.Val120Ile | |
| XM_024447278.1:c.1693G>A | XP_024303046.1:p.Val565Ile | |
| XM_024447279.1:c.1612G>A | XP_024303047.1:p.Val538Ile | |
| XM_024447281.1:c.1570G>A | XP_024303049.1:p.Val524Ile | |
| XM_024447282.1:c.1120G>A | XP_024303050.1:p.Val374Ile | |
| XM_024447283.1:c.796G>A | XP_024303051.1:p.Val266Ile | |
| XM_024447284.1:c.358G>A | XP_024303052.1:p.Val120Ile | |
| NM_001363131.2:c.1612G>A | NP_001350060.1:p.Val538Ile | |
| NM_001363132.2:c.1651G>A | NP_001350061.1:p.Val551Ile | |
| NM_001363133.2:c.1570G>A | NP_001350062.1:p.Val524Ile | |
| NM_001291339.2:c.796G>A | NP_001278268.1:p.Val266Ile | |
| NM_001382391.1:c.1693G>A MANE Select | NP_001369320.1:p.Val565Ile |