|
ENST00000256578.8:c.1885G>C
|
ENSP00000256578.4:p.Val629Leu
|
|
|
ENST00000358729.9:c.1885G>C
|
ENSP00000351573.5:p.Val629Leu
|
|
|
ENST00000369840.7:c.1885G>C
|
ENSP00000358855.3:p.Val629Leu
|
|
|
ENST00000474459.6:n.2504G>C
|
|
|
|
ENST00000476688.3:c.1567G>C
|
ENSP00000437025.2:p.Val523Leu
|
|
|
ENST00000486282.7:n.3139G>C
|
|
|
|
ENST00000524975.2:n.2668G>C
|
|
|
|
ENST00000525415.2:n.2397G>C
|
|
|
|
ENST00000526301.6:n.1948G>C
|
|
|
|
ENST00000527846.7:n.1740G>C
|
|
|
|
ENST00000528667.7:c.1885G>C
MANE Select
|
ENSP00000436541.2:p.Val629Leu
|
|
|
ENST00000531203.6:c.1693G>C
|
ENSP00000431975.2:p.Val565Leu
|
|
|
ENST00000531734.6:c.1804G>C
|
ENSP00000433739.2:p.Val602Leu
|
|
|
ENST00000652975.2:c.*1614+328G>C
|
ENSP00000499620.2:n.*1614+328G>C
|
|
|
ENST00000654851.1:n.1727G>C
|
|
|
|
ENST00000655992.1:c.1689G>C
|
ENSP00000499740.1:p.Leu563Phe
|
|
|
ENST00000659122.2:c.1721G>C
|
ENSP00000499621.2:n.1721G>C
|
|
|
ENST00000663749.1:c.*1609+328G>C
|
ENSP00000499739.1:n.*1609+328G>C
|
|
|
ENST00000667949.2:c.1285G>C
|
ENSP00000499465.2:p.Val429Leu
|
|
|
ENST00000668421.1:c.*1826G>C
|
ENSP00000499362.1:n.*1826G>C
|
|
|
ENST00000679379.1:c.*1637G>C
|
ENSP00000505528.1:n.*1637G>C
|
|
|
ENST00000679593.1:c.1881G>C
|
ENSP00000505999.1:p.Leu627Phe
|
|
|
ENST00000679880.1:n.2421G>C
|
|
|
|
ENST00000679892.1:c.*1653G>C
|
ENSP00000504882.1:n.*1653G>C
|
|
|
ENST00000679981.1:c.*1899G>C
|
ENSP00000506422.1:n.*1899G>C
|
|
|
ENST00000680132.1:c.*1835G>C
|
ENSP00000505950.1:n.*1835G>C
|
|
|
ENST00000680148.1:c.*1633G>C
|
ENSP00000505994.1:n.*1633G>C
|
|
|
ENST00000680170.1:n.2750G>C
|
|
|
|
ENST00000680192.1:n.3145G>C
|
|
|
|
ENST00000680519.1:n.2121G>C
|
|
|
|
ENST00000680531.1:c.*1632G>C
|
ENSP00000506332.1:n.*1632G>C
|
|
|
ENST00000680820.1:c.*1939G>C
|
ENSP00000505735.1:n.*1939G>C
|
|
|
ENST00000680832.1:c.*1985G>C
|
ENSP00000505774.1:n.*1985G>C
|
|
|
ENST00000680929.1:c.*1574G>C
|
ENSP00000504916.1:n.*1574G>C
|
|
|
ENST00000681108.1:c.*1559G>C
|
ENSP00000506701.1:n.*1559G>C
|
|
|
ENST00000681121.1:c.*995G>C
|
ENSP00000506466.1:n.*995G>C
|
|
|
ENST00000681132.1:c.*1651G>C
|
ENSP00000506195.1:n.*1651G>C
|
|
|
ENST00000681181.1:c.*2172G>C
|
ENSP00000506038.1:n.*2172G>C
|
|
|
ENST00000681218.1:c.*2154G>C
|
ENSP00000505976.1:n.*2154G>C
|
|
|
ENST00000681246.1:c.*1541G>C
|
ENSP00000505534.1:n.*1541G>C
|
|
|
ENST00000681496.1:c.*2158G>C
|
ENSP00000505948.1:n.*2158G>C
|
|
|
ENST00000681834.1:n.2529G>C
|
|
|
|
ENST00000681862.1:c.*2011G>C
|
ENSP00000505537.1:n.*2011G>C
|
|
|
ENST00000256578.7:c.2047G>C
|
ENSP00000256578.3:p.Val683Leu
|
|
|
ENST00000342115.8:c.1804G>C
|
ENSP00000345498.4:p.Val602Leu
|
|
|
ENST00000358729.8:c.1822G>C
|
ENSP00000351573.4:p.Val608Leu
|
|
|
ENST00000369840.6:c.1958G>C
|
|
|
|
ENST00000393688.7:c.1690G>C
|
ENSP00000377292.3:p.Val564Leu
|
|
|
ENST00000476688.2:c.213G>C
|
|
|
|
ENST00000479919.1:n.307+328G>C
|
|
|
|
ENST00000526301.5:n.2082G>C
|
|
|
|
ENST00000528454.5:c.1693G>C
|
ENSP00000437164.1:p.Val565Leu
|
|
|
ENST00000528667.5:c.2047G>C
|
ENSP00000436541.1:p.Val683Leu
|
|
|
NM_001257360.1:c.2047G>C
|
NP_001244289.1:p.Val683Leu
|
|
|
NM_001257361.1:c.1693G>C
|
NP_001244290.1:p.Val565Leu
|
|
|
NM_001308170.1:c.1822G>C
|
NP_001295099.1:p.Val608Leu
|
|
|
NM_004037.7:c.2047G>C
|
NP_004028.3:p.Val683Leu
|
|
|
NM_139156.3:c.1804G>C
|
NP_631895.1:p.Val602Leu
|
|
|
NM_203404.1:c.1690G>C
|
NP_981949.1:p.Val564Leu
|
|
|
XM_011541247.1:c.2260G>C
|
XP_011539549.1:p.Val754Leu
|
|
|
XR_946607.1:n.2260+328G>C
|
|
|
|
XM_024446431.1:c.1822G>C
|
XP_024302199.1:p.Val608Leu
|
|
|
XM_024446432.1:c.1744G>C
|
XP_024302200.1:p.Val582Leu
|
|
|
XR_002956282.1:n.2435+328G>C
|
|
|
|
NM_001257360.2:c.2047G>C
|
NP_001244289.1:p.Val683Leu
|
|
|
NM_001368809.2:c.1885G>C
MANE Select
|
NP_001355738.1:p.Val629Leu
|
|
|
NM_004037.9:c.1885G>C
|
NP_004028.4:p.Val629Leu
|
|
|
NM_001257361.2:c.1693G>C
|
NP_001244290.1:p.Val565Leu
|
|
|
NM_139156.4:c.1804G>C
|
NP_631895.1:p.Val602Leu
|
|
