Linked Data
ClinVar Variation Id:
434847
dbSNP Id:
rs1402669959
gnomAD v2:
8-68066350-C-A
gnomAD v4:
8-67154115-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67154115C>A , CM000670.2:g.67154115C>A | GRCh38 |
| NC_000008.10:g.68066350C>A , CM000670.1:g.68066350C>A | GRCh37 |
| NC_000008.9:g.68228904C>A | NCBI36 |
| NG_034100.1:g.94748C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.2286C>A | ENSP00000262210.6:p.Tyr762Ter | |
| ENST00000521324.3:c.92C>A | ||
| ENST00000674993.1:c.2310C>A | ENSP00000502454.1:p.Tyr770Ter | |
| ENST00000675306.2:c.1944C>A | ENSP00000502421.1:p.Tyr648Ter | |
| ENST00000675869.1:c.2025C>A | ENSP00000502747.1:p.Tyr675Ter | |
| ENST00000675955.1:c.2139C>A | ENSP00000501676.1:p.Tyr713Ter | |
| ENST00000676113.1:c.2178C>A | ENSP00000501645.1:p.Tyr726Ter | |
| ENST00000676317.1:c.2205C>A | ENSP00000502047.1:p.Tyr735Ter | |
| ENST00000676471.1:c.1953C>A | ENSP00000503711.1:p.Tyr651Ter | |
| ENST00000676534.1:n.5146C>A | ||
| ENST00000676567.1:c.*844C>A | ENSP00000503427.1:n.*844C>A | |
| ENST00000676573.1:c.1521C>A | ENSP00000504532.1:p.Tyr507Ter | |
| ENST00000676605.1:c.2328C>A | ENSP00000503605.1:p.Tyr776Ter | |
| ENST00000676695.1:c.2146C>A | ENSP00000503292.1:n.2146C>A | |
| ENST00000676697.1:n.3081C>A | ||
| ENST00000676804.1:c.523C>A | ||
| ENST00000676847.1:c.2199C>A | ENSP00000503336.1:p.Tyr733Ter | |
| ENST00000676858.1:c.*181C>A | ENSP00000502925.1:n.*181C>A | |
| ENST00000676882.1:c.2106C>A | ENSP00000504342.1:p.Tyr702Ter | |
| ENST00000676968.1:c.92C>A | ||
| ENST00000677009.1:c.2205C>A | ENSP00000503297.1:p.Tyr735Ter | |
| ENST00000677052.1:n.1718C>A | ||
| ENST00000677131.1:c.92C>A | ||
| ENST00000677256.1:c.*1939C>A | ENSP00000504102.1:n.*1939C>A | |
| ENST00000677430.1:c.2139C>A | ENSP00000504177.1:p.Tyr713Ter | |
| ENST00000677455.1:n.2093C>A | ||
| ENST00000677473.1:c.*236C>A | ENSP00000503534.1:n.*236C>A | |
| ENST00000677592.1:c.2187C>A | ENSP00000504516.1:p.Tyr729Ter | |
| ENST00000677619.1:c.1566C>A | ENSP00000504522.1:p.Tyr522Ter | |
| ENST00000677845.1:c.*591C>A | ENSP00000503524.1:n.*591C>A | |
| ENST00000677855.1:c.1550-4332C>A | ENSP00000504757.1:n.1550-4332C>A | |
| ENST00000677964.1:c.92C>A | ||
| ENST00000678017.1:c.1071C>A | ENSP00000504394.1:p.Tyr357Ter | |
| ENST00000678138.1:n.2383C>A | ||
| ENST00000678156.1:n.1860C>A | ||
| ENST00000678318.1:c.1755C>A | ENSP00000503690.1:p.Tyr585Ter | |
| ENST00000678362.1:c.*997C>A | ENSP00000504317.1:n.*997C>A | |
| ENST00000678542.1:c.2328C>A | ENSP00000503878.1:p.Tyr776Ter | |
| ENST00000678616.1:c.2220C>A MANE Select | ENSP00000504733.1:p.Tyr740Ter | |
| ENST00000678635.1:n.715C>A | ||
| ENST00000678645.1:c.2097C>A | ENSP00000504031.1:p.Tyr699Ter | |
| ENST00000678723.1:c.92C>A | ||
| ENST00000678747.1:c.1647C>A | ENSP00000503390.1:p.Tyr549Ter | |
| ENST00000678807.1:n.1255C>A | ||
| ENST00000678895.1:c.92C>A | ||
| ENST00000679042.1:n.3045C>A | ||
| ENST00000679112.1:c.*2119C>A | ENSP00000503739.1:n.*2119C>A | |
| ENST00000679226.1:c.1944C>A | ENSP00000503601.1:p.Tyr648Ter | |
| ENST00000679274.1:n.1144C>A | ||
| ENST00000679295.1:n.1191C>A | ||
| ENST00000262210.9:c.2205C>A | ENSP00000262210.5:p.Tyr735Ter | |
| ENST00000519163.6:c.*2471C>A | ENSP00000428694.1:n.*2471C>A | |
| ENST00000519668.1:c.1170C>A | ENSP00000430092.1:p.Tyr390Ter | |
| NM_001291339.1:c.1170C>A | NP_001278268.1:p.Tyr390Ter | |
| NM_024790.6:c.2205C>A | NP_079066.5:p.Tyr735Ter | |
| XM_005251305.3:c.2448C>A | XP_005251362.2:p.Tyr816Ter | |
| XM_006716474.2:c.2295C>A | XP_006716537.2:p.Tyr765Ter | |
| XM_006716477.2:c.1917C>A | XP_006716540.2:p.Tyr639Ter | |
| XM_011517598.1:c.2490C>A | XP_011515900.1:p.Tyr830Ter | |
| XM_011517599.1:c.2466C>A | XP_011515901.1:p.Tyr822Ter | |
| XM_011517600.1:c.2424C>A | XP_011515902.1:p.Tyr808Ter | |
| XM_011517601.1:c.2385C>A | XP_011515903.1:p.Tyr795Ter | |
| XM_011517602.1:c.2343C>A | XP_011515904.1:p.Tyr781Ter | |
| XM_011517603.1:c.2244C>A | XP_011515905.1:p.Tyr748Ter | |
| XM_011517604.1:c.2244C>A | XP_011515906.1:p.Tyr748Ter | |
| XM_011517605.1:c.2244C>A | XP_011515907.1:p.Tyr748Ter | |
| XM_011517606.1:c.2220C>A | XP_011515908.1:p.Tyr740Ter | |
| XM_011517607.1:c.2220C>A | XP_011515909.1:p.Tyr740Ter | |
| XM_011517608.1:c.2139C>A | XP_011515910.1:p.Tyr713Ter | |
| XM_011517609.1:c.1365C>A | XP_011515911.1:p.Tyr455Ter | |
| XM_011517610.1:c.885C>A | XP_011515912.1:p.Tyr295Ter | |
| XM_011517611.1:c.525C>A | XP_011515913.1:p.Tyr175Ter | |
| NM_001363131.1:c.2139C>A | NP_001350060.1:p.Tyr713Ter | |
| NM_001363132.1:c.2025C>A | NP_001350061.1:p.Tyr675Ter | |
| NM_001363133.1:c.1944C>A | NP_001350062.1:p.Tyr648Ter | |
| NM_001364869.1:c.2286C>A | NP_001351798.1:p.Tyr762Ter | |
| NM_001364870.1:c.2106C>A | NP_001351799.1:p.Tyr702Ter | |
| XM_005251305.4:c.2448C>A | XP_005251362.2:p.Tyr816Ter | |
| XM_006716474.3:c.2295C>A | XP_006716537.2:p.Tyr765Ter | |
| XM_006716477.3:c.1917C>A | XP_006716540.2:p.Tyr639Ter | |
| XM_011517598.2:c.2490C>A | XP_011515900.1:p.Tyr830Ter | |
| XM_011517599.2:c.2466C>A | XP_011515901.1:p.Tyr822Ter | |
| XM_011517600.2:c.2424C>A | XP_011515902.1:p.Tyr808Ter | |
| XM_011517601.2:c.2385C>A | XP_011515903.1:p.Tyr795Ter | |
| XM_011517602.2:c.2343C>A | XP_011515904.1:p.Tyr781Ter | |
| XM_011517603.2:c.2244C>A | XP_011515905.1:p.Tyr748Ter | |
| XM_011517607.2:c.2220C>A | XP_011515909.1:p.Tyr740Ter | |
| XM_011517609.2:c.1365C>A | XP_011515911.1:p.Tyr455Ter | |
| XM_011517611.3:c.525C>A | XP_011515913.1:p.Tyr175Ter | |
| XM_017013847.2:c.2349C>A | XP_016869336.1:p.Tyr783Ter | |
| XM_017013848.2:c.2325C>A | XP_016869337.1:p.Tyr775Ter | |
| XM_017013849.2:c.2286C>A | XP_016869338.1:p.Tyr762Ter | |
| XM_017013850.2:c.2244C>A | XP_016869339.1:p.Tyr748Ter | |
| XM_017013851.2:c.2097C>A | XP_016869340.1:p.Tyr699Ter | |
| XM_017013852.2:c.2091C>A | XP_016869341.1:p.Tyr697Ter | |
| XM_017013854.2:c.1893C>A | XP_016869343.1:p.Tyr631Ter | |
| XM_017013855.2:c.1659C>A | XP_016869344.1:p.Tyr553Ter | |
| XM_017013856.2:c.1566C>A | XP_016869345.1:p.Tyr522Ter | |
| XM_017013858.2:c.732C>A | XP_016869347.1:p.Tyr244Ter | |
| XM_024447278.1:c.2220C>A | XP_024303046.1:p.Tyr740Ter | |
| XM_024447279.1:c.2139C>A | XP_024303047.1:p.Tyr713Ter | |
| XM_024447281.1:c.1944C>A | XP_024303049.1:p.Tyr648Ter | |
| XM_024447282.1:c.1647C>A | XP_024303050.1:p.Tyr549Ter | |
| XM_024447283.1:c.1323C>A | XP_024303051.1:p.Tyr441Ter | |
| XM_024447284.1:c.885C>A | XP_024303052.1:p.Tyr295Ter | |
| NM_001363131.2:c.2139C>A | NP_001350060.1:p.Tyr713Ter | |
| NM_001363132.2:c.2025C>A | NP_001350061.1:p.Tyr675Ter | |
| NM_001363133.2:c.1944C>A | NP_001350062.1:p.Tyr648Ter | |
| NM_001291339.2:c.1170C>A | NP_001278268.1:p.Tyr390Ter | |
| NM_001382391.1:c.2220C>A MANE Select | NP_001369320.1:p.Tyr740Ter |