Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523078G>C , CM000671.2:g.131523078G>C	GRCh38
NC_000009.11:g.134398465G>C , CM000671.1:g.134398465G>C	GRCh37
NC_000009.10:g.133388286G>C	NCBI36
NG_008896.1:g.25177G>C
NG_008896.2:g.25177G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1988G>C	ENSP00000343034.7:p.Ser663Thr
ENST00000404875.7:n.2690G>C
ENST00000423007.6:c.2207G>C	ENSP00000404119.2:p.Ser736Thr
ENST00000677295.2:c.*2494G>C	ENSP00000504346.2:n.*2494G>C
ENST00000678264.2:c.*2333G>C	ENSP00000503157.2:n.*2333G>C
ENST00000682070.1:n.2460G>C
ENST00000682639.1:c.147G>C
ENST00000682813.1:n.2547G>C
ENST00000683231.1:c.147G>C
ENST00000683392.1:n.4742G>C
ENST00000683712.1:n.2555G>C
ENST00000683900.1:n.4050G>C
ENST00000684062.1:n.2816G>C
ENST00000684399.1:c.147G>C
ENST00000684579.1:n.3996G>C
ENST00000341012.12:c.1988G>C	ENSP00000343034.7:p.Ser663Thr
ENST00000372220.5:c.1019G>C	ENSP00000361294.5:p.Ser340Thr
ENST00000372228.9:c.2216G>C	ENSP00000361302.3:p.Ser739Thr
ENST00000402686.8:c.2150G>C MANE Select	ENSP00000385797.4:p.Ser717Thr
ENST00000676640.1:c.2150G>C	ENSP00000503281.1:p.Ser717Thr
ENST00000676803.1:c.1211G>C	ENSP00000503093.1:p.Ser404Thr
ENST00000676835.1:c.*1365G>C	ENSP00000502911.1:n.*1365G>C
ENST00000677029.1:c.1694G>C	ENSP00000502936.1:p.Ser565Thr
ENST00000677099.1:c.*1860G>C	ENSP00000504553.1:n.*1860G>C
ENST00000677216.1:c.1799G>C	ENSP00000503772.1:p.Ser600Thr
ENST00000677295.1:c.*1372G>C	ENSP00000504346.1:n.*1372G>C
ENST00000677444.1:c.2095G>C
ENST00000677586.1:n.1517G>C
ENST00000677626.1:c.1799G>C	ENSP00000503552.1:p.Ser600Thr
ENST00000677853.1:c.*1158G>C	ENSP00000503488.1:n.*1158G>C
ENST00000678264.1:c.*1527G>C	ENSP00000503157.1:n.*1527G>C
ENST00000678303.1:c.2060G>C	ENSP00000503696.1:p.Ser687Thr
ENST00000678366.1:c.*2399G>C	ENSP00000504353.1:n.*2399G>C
ENST00000678546.1:c.*2095G>C	ENSP00000503062.1:n.*2095G>C
ENST00000678548.1:c.*2289G>C	ENSP00000503934.1:n.*2289G>C
ENST00000678626.1:n.1986G>C
ENST00000678739.1:c.*2316G>C	ENSP00000503806.1:n.*2316G>C
ENST00000678833.1:c.*1902G>C	ENSP00000503893.1:n.*1902G>C
ENST00000679023.1:c.1988G>C	ENSP00000503718.1:p.Ser663Thr
ENST00000679076.1:c.1769G>C
ENST00000679111.1:c.*906G>C	ENSP00000504257.1:n.*906G>C
ENST00000679189.1:c.1799G>C	ENSP00000503356.1:p.Ser600Thr
ENST00000341012.11:c.1988G>C	ENSP00000343034.7:p.Ser663Thr
ENST00000372220.4:c.1013G>C	ENSP00000361294.4:p.Ser338Thr
ENST00000372228.7:c.2216G>C	ENSP00000361302.3:p.Ser739Thr
ENST00000402686.7:c.2150G>C	ENSP00000385797.3:p.Ser717Thr
ENST00000404875.6:c.1799G>C	ENSP00000384531.2:p.Ser600Thr
ENST00000423007.5:c.2150G>C	ENSP00000404119.1:p.Ser717Thr
ENST00000485278.5:n.2700G>C
NM_001077365.1:c.2150G>C	NP_001070833.1:p.Ser717Thr
NM_001077366.1:c.1988G>C	NP_001070834.1:p.Ser663Thr
NM_001136113.1:c.2150G>C	NP_001129585.1:p.Ser717Thr
NM_001136114.1:c.1799G>C	NP_001129586.1:p.Ser600Thr
NM_007171.3:c.2216G>C	NP_009102.3:p.Ser739Thr
XM_005272156.1:c.2216G>C	XP_005272213.1:p.Ser739Thr
XM_005272158.1:c.2054G>C	XP_005272215.1:p.Ser685Thr
XM_005272159.1:c.1865G>C	XP_005272216.1:p.Ser622Thr
XM_005272162.1:c.1019G>C	XP_005272219.1:p.Ser340Thr
XM_006716932.1:c.1865G>C	XP_006716995.1:p.Ser622Thr
XM_011518140.1:c.2069G>C	XP_011516442.1:p.Ser690Thr
XM_011518141.1:c.2003G>C	XP_011516443.1:p.Ser668Thr
XM_011518142.1:c.1907G>C	XP_011516444.1:p.Ser636Thr
XM_011518143.1:c.1901G>C	XP_011516445.1:p.Ser634Thr
XM_011518145.1:c.1760G>C	XP_011516447.1:p.Ser587Thr
XM_011518147.1:c.1088G>C	XP_011516449.1:p.Ser363Thr
XR_929703.1:n.2392G>C
NM_001353193.1:c.2216G>C	NP_001340122.1:p.Ser739Thr
NM_001353194.1:c.1988G>C	NP_001340123.1:p.Ser663Thr
NM_001353195.1:c.1799G>C	NP_001340124.1:p.Ser600Thr
NM_001353196.1:c.2060G>C	NP_001340125.1:p.Ser687Thr
NM_001353197.1:c.2054G>C	NP_001340126.1:p.Ser685Thr
NM_001353198.1:c.2054G>C	NP_001340127.1:p.Ser685Thr
NM_001353199.1:c.1865G>C	NP_001340128.1:p.Ser622Thr
NM_001353200.1:c.1694G>C	NP_001340129.1:p.Ser565Thr
NR_148391.1:n.2200G>C
NR_148392.1:n.2418G>C
NR_148393.1:n.2339G>C
NR_148394.1:n.2093G>C
NR_148395.1:n.2491G>C
NR_148396.1:n.2125G>C
NR_148397.1:n.2250G>C
NR_148398.1:n.2205G>C
NR_148399.1:n.2731G>C
NR_148400.1:n.2330G>C
XM_005272162.3:c.1019G>C	XP_005272219.1:p.Ser340Thr
XM_006716932.2:c.1865G>C	XP_006716995.1:p.Ser622Thr
XM_011518140.2:c.2069G>C	XP_011516442.1:p.Ser690Thr
XM_011518141.2:c.2003G>C	XP_011516443.1:p.Ser668Thr
XM_011518142.2:c.1907G>C	XP_011516444.1:p.Ser636Thr
XM_011518143.2:c.1901G>C	XP_011516445.1:p.Ser634Thr
XM_011518145.2:c.1760G>C	XP_011516447.1:p.Ser587Thr
XM_017014205.2:c.1019G>C	XP_016869694.1:p.Ser340Thr
XM_024447380.1:c.1019G>C	XP_024303148.1:p.Ser340Thr
XM_024447381.1:c.1325G>C	XP_024303149.1:p.Ser442Thr
XM_024447382.1:c.1019G>C	XP_024303150.1:p.Ser340Thr
XR_001746160.2:n.2320G>C
XR_001746162.2:n.2525G>C
XR_001746164.1:n.2242G>C
XR_001746166.2:n.2537G>C
NM_001077365.2:c.2150G>C MANE Select	NP_001070833.1:p.Ser717Thr
NM_001077366.2:c.1988G>C	NP_001070834.1:p.Ser663Thr
NM_001136113.2:c.2150G>C	NP_001129585.1:p.Ser717Thr
NM_001136114.2:c.1799G>C	NP_001129586.1:p.Ser600Thr
NM_001353193.2:c.2216G>C	NP_001340122.2:p.Ser739Thr
NM_001353194.2:c.1988G>C	NP_001340123.1:p.Ser663Thr
NM_001353195.2:c.1799G>C	NP_001340124.1:p.Ser600Thr
NM_001353196.2:c.2060G>C	NP_001340125.1:p.Ser687Thr
NM_001353197.2:c.2054G>C	NP_001340126.2:p.Ser685Thr
NM_001353198.2:c.2054G>C	NP_001340127.2:p.Ser685Thr
NM_001353199.2:c.1865G>C	NP_001340128.2:p.Ser622Thr
NM_001353200.2:c.1694G>C	NP_001340129.1:p.Ser565Thr
NM_001374689.1:c.2138G>C	NP_001361618.1:p.Ser713Thr
NM_001374690.1:c.1931G>C	NP_001361619.1:p.Ser644Thr
NM_001374691.1:c.1799G>C	NP_001361620.1:p.Ser600Thr
NM_001374692.1:c.1799G>C	NP_001361621.1:p.Ser600Thr
NM_001374693.1:c.1799G>C	NP_001361622.1:p.Ser600Thr
NM_001374695.1:c.1760G>C	NP_001361624.1:p.Ser587Thr
NM_007171.4:c.2216G>C	NP_009102.4:p.Ser739Thr
NR_148391.2:n.2184G>C
NR_148392.2:n.2402G>C
NR_148393.2:n.2323G>C
NR_148394.2:n.2077G>C
NR_148395.2:n.2475G>C
NR_148396.2:n.2109G>C
NR_148397.2:n.2234G>C
NR_148398.2:n.2189G>C
NR_148399.2:n.2715G>C
NR_148400.2:n.2314G>C

Linked Data

Genomic Alleles

Transcript Alleles