Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522946G>C , CM000671.2:g.131522946G>C	GRCh38
NC_000009.11:g.134398333G>C , CM000671.1:g.134398333G>C	GRCh37
NC_000009.10:g.133388154G>C	NCBI36
NG_008896.1:g.25045G>C
NG_008896.2:g.25045G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1856G>C	ENSP00000343034.7:p.Arg619Thr
ENST00000404875.7:n.2558G>C
ENST00000423007.6:c.2075G>C	ENSP00000404119.2:p.Arg692Thr
ENST00000677295.2:c.*2362G>C	ENSP00000504346.2:n.*2362G>C
ENST00000678264.2:c.*2201G>C	ENSP00000503157.2:n.*2201G>C
ENST00000682070.1:n.2328G>C
ENST00000682639.1:c.15G>C
ENST00000682813.1:n.2415G>C
ENST00000683231.1:c.15G>C
ENST00000683392.1:n.4610G>C
ENST00000683712.1:n.2423G>C
ENST00000683900.1:n.3918G>C
ENST00000684062.1:n.2684G>C
ENST00000684399.1:c.15G>C
ENST00000684579.1:n.3864G>C
ENST00000341012.12:c.1856G>C	ENSP00000343034.7:p.Arg619Thr
ENST00000372220.5:c.887G>C	ENSP00000361294.5:p.Arg296Thr
ENST00000372228.9:c.2084G>C	ENSP00000361302.3:p.Arg695Thr
ENST00000402686.8:c.2018G>C MANE Select	ENSP00000385797.4:p.Arg673Thr
ENST00000676640.1:c.2018G>C	ENSP00000503281.1:p.Arg673Thr
ENST00000676803.1:c.1079G>C	ENSP00000503093.1:p.Arg360Thr
ENST00000676835.1:c.*1233G>C	ENSP00000502911.1:n.*1233G>C
ENST00000677029.1:c.1562G>C	ENSP00000502936.1:p.Arg521Thr
ENST00000677099.1:c.*1728G>C	ENSP00000504553.1:n.*1728G>C
ENST00000677216.1:c.1667G>C	ENSP00000503772.1:p.Arg556Thr
ENST00000677221.1:n.1043G>C
ENST00000677295.1:c.*1240G>C	ENSP00000504346.1:n.*1240G>C
ENST00000677444.1:c.1963G>C
ENST00000677586.1:n.1385G>C
ENST00000677626.1:c.1667G>C	ENSP00000503552.1:p.Arg556Thr
ENST00000677853.1:c.*1026G>C	ENSP00000503488.1:n.*1026G>C
ENST00000678264.1:c.*1395G>C	ENSP00000503157.1:n.*1395G>C
ENST00000678303.1:c.1928G>C	ENSP00000503696.1:p.Arg643Thr
ENST00000678366.1:c.*2267G>C	ENSP00000504353.1:n.*2267G>C
ENST00000678546.1:c.*1963G>C	ENSP00000503062.1:n.*1963G>C
ENST00000678548.1:c.*2157G>C	ENSP00000503934.1:n.*2157G>C
ENST00000678626.1:n.1854G>C
ENST00000678739.1:c.*2184G>C	ENSP00000503806.1:n.*2184G>C
ENST00000678833.1:c.*1770G>C	ENSP00000503893.1:n.*1770G>C
ENST00000679023.1:c.1856G>C	ENSP00000503718.1:p.Arg619Thr
ENST00000679076.1:c.1637G>C
ENST00000679111.1:c.*774G>C	ENSP00000504257.1:n.*774G>C
ENST00000679189.1:c.1667G>C	ENSP00000503356.1:p.Arg556Thr
ENST00000341012.11:c.1856G>C	ENSP00000343034.7:p.Arg619Thr
ENST00000372220.4:c.881G>C	ENSP00000361294.4:p.Arg294Thr
ENST00000372228.7:c.2084G>C	ENSP00000361302.3:p.Arg695Thr
ENST00000402686.7:c.2018G>C	ENSP00000385797.3:p.Arg673Thr
ENST00000404875.6:c.1667G>C	ENSP00000384531.2:p.Arg556Thr
ENST00000423007.5:c.2018G>C	ENSP00000404119.1:p.Arg673Thr
ENST00000485278.5:n.2568G>C
NM_001077365.1:c.2018G>C	NP_001070833.1:p.Arg673Thr
NM_001077366.1:c.1856G>C	NP_001070834.1:p.Arg619Thr
NM_001136113.1:c.2018G>C	NP_001129585.1:p.Arg673Thr
NM_001136114.1:c.1667G>C	NP_001129586.1:p.Arg556Thr
NM_007171.3:c.2084G>C	NP_009102.3:p.Arg695Thr
XM_005272156.1:c.2084G>C	XP_005272213.1:p.Arg695Thr
XM_005272158.1:c.1922G>C	XP_005272215.1:p.Arg641Thr
XM_005272159.1:c.1733G>C	XP_005272216.1:p.Arg578Thr
XM_005272162.1:c.887G>C	XP_005272219.1:p.Arg296Thr
XM_006716932.1:c.1733G>C	XP_006716995.1:p.Arg578Thr
XM_011518140.1:c.1937G>C	XP_011516442.1:p.Arg646Thr
XM_011518141.1:c.1871G>C	XP_011516443.1:p.Arg624Thr
XM_011518142.1:c.1775G>C	XP_011516444.1:p.Arg592Thr
XM_011518143.1:c.1769G>C	XP_011516445.1:p.Arg590Thr
XM_011518145.1:c.1628G>C	XP_011516447.1:p.Arg543Thr
XM_011518147.1:c.956G>C	XP_011516449.1:p.Arg319Thr
XR_929703.1:n.2260G>C
NM_001353193.1:c.2084G>C	NP_001340122.1:p.Arg695Thr
NM_001353194.1:c.1856G>C	NP_001340123.1:p.Arg619Thr
NM_001353195.1:c.1667G>C	NP_001340124.1:p.Arg556Thr
NM_001353196.1:c.1928G>C	NP_001340125.1:p.Arg643Thr
NM_001353197.1:c.1922G>C	NP_001340126.1:p.Arg641Thr
NM_001353198.1:c.1922G>C	NP_001340127.1:p.Arg641Thr
NM_001353199.1:c.1733G>C	NP_001340128.1:p.Arg578Thr
NM_001353200.1:c.1562G>C	NP_001340129.1:p.Arg521Thr
NR_148391.1:n.2068G>C
NR_148392.1:n.2286G>C
NR_148393.1:n.2207G>C
NR_148394.1:n.1961G>C
NR_148395.1:n.2359G>C
NR_148396.1:n.1993G>C
NR_148397.1:n.2118G>C
NR_148398.1:n.2073G>C
NR_148399.1:n.2599G>C
NR_148400.1:n.2198G>C
XM_005272162.3:c.887G>C	XP_005272219.1:p.Arg296Thr
XM_006716932.2:c.1733G>C	XP_006716995.1:p.Arg578Thr
XM_011518140.2:c.1937G>C	XP_011516442.1:p.Arg646Thr
XM_011518141.2:c.1871G>C	XP_011516443.1:p.Arg624Thr
XM_011518142.2:c.1775G>C	XP_011516444.1:p.Arg592Thr
XM_011518143.2:c.1769G>C	XP_011516445.1:p.Arg590Thr
XM_011518145.2:c.1628G>C	XP_011516447.1:p.Arg543Thr
XM_017014205.2:c.887G>C	XP_016869694.1:p.Arg296Thr
XM_024447380.1:c.887G>C	XP_024303148.1:p.Arg296Thr
XM_024447381.1:c.1193G>C	XP_024303149.1:p.Arg398Thr
XM_024447382.1:c.887G>C	XP_024303150.1:p.Arg296Thr
XR_001746160.2:n.2188G>C
XR_001746162.2:n.2393G>C
XR_001746164.1:n.2110G>C
XR_001746166.2:n.2405G>C
NM_001077365.2:c.2018G>C MANE Select	NP_001070833.1:p.Arg673Thr
NM_001077366.2:c.1856G>C	NP_001070834.1:p.Arg619Thr
NM_001136113.2:c.2018G>C	NP_001129585.1:p.Arg673Thr
NM_001136114.2:c.1667G>C	NP_001129586.1:p.Arg556Thr
NM_001353193.2:c.2084G>C	NP_001340122.2:p.Arg695Thr
NM_001353194.2:c.1856G>C	NP_001340123.1:p.Arg619Thr
NM_001353195.2:c.1667G>C	NP_001340124.1:p.Arg556Thr
NM_001353196.2:c.1928G>C	NP_001340125.1:p.Arg643Thr
NM_001353197.2:c.1922G>C	NP_001340126.2:p.Arg641Thr
NM_001353198.2:c.1922G>C	NP_001340127.2:p.Arg641Thr
NM_001353199.2:c.1733G>C	NP_001340128.2:p.Arg578Thr
NM_001353200.2:c.1562G>C	NP_001340129.1:p.Arg521Thr
NM_001374689.1:c.2006G>C	NP_001361618.1:p.Arg669Thr
NM_001374690.1:c.1799G>C	NP_001361619.1:p.Arg600Thr
NM_001374691.1:c.1667G>C	NP_001361620.1:p.Arg556Thr
NM_001374692.1:c.1667G>C	NP_001361621.1:p.Arg556Thr
NM_001374693.1:c.1667G>C	NP_001361622.1:p.Arg556Thr
NM_001374695.1:c.1628G>C	NP_001361624.1:p.Arg543Thr
NM_007171.4:c.2084G>C	NP_009102.4:p.Arg695Thr
NR_148391.2:n.2052G>C
NR_148392.2:n.2270G>C
NR_148393.2:n.2191G>C
NR_148394.2:n.1945G>C
NR_148395.2:n.2343G>C
NR_148396.2:n.1977G>C
NR_148397.2:n.2102G>C
NR_148398.2:n.2057G>C
NR_148399.2:n.2583G>C
NR_148400.2:n.2182G>C

Linked Data

Genomic Alleles

Transcript Alleles