Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522932G>C , CM000671.2:g.131522932G>C	GRCh38
NC_000009.11:g.134398319G>C , CM000671.1:g.134398319G>C	GRCh37
NC_000009.10:g.133388140G>C	NCBI36
NG_008896.1:g.25031G>C
NG_008896.2:g.25031G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1842G>C	ENSP00000343034.7:p.Arg614Ser
ENST00000404875.7:n.2544G>C
ENST00000423007.6:c.2061G>C	ENSP00000404119.2:p.Arg687Ser
ENST00000677295.2:c.*2348G>C	ENSP00000504346.2:n.*2348G>C
ENST00000678264.2:c.*2187G>C	ENSP00000503157.2:n.*2187G>C
ENST00000682070.1:n.2314G>C
ENST00000682639.1:c.1G>C
ENST00000682813.1:n.2408-7G>C
ENST00000683231.1:c.1G>C
ENST00000683392.1:n.4596G>C
ENST00000683712.1:n.2409G>C
ENST00000683900.1:n.3904G>C
ENST00000684062.1:n.2670G>C
ENST00000684399.1:c.1G>C
ENST00000684579.1:n.3850G>C
ENST00000341012.12:c.1842G>C	ENSP00000343034.7:p.Arg614Ser
ENST00000372220.5:c.873G>C	ENSP00000361294.5:p.Arg291Ser
ENST00000372228.9:c.2070G>C	ENSP00000361302.3:p.Arg690Ser
ENST00000402686.8:c.2004G>C MANE Select	ENSP00000385797.4:p.Arg668Ser
ENST00000676640.1:c.2004G>C	ENSP00000503281.1:p.Arg668Ser
ENST00000676803.1:c.1065G>C	ENSP00000503093.1:p.Arg355Ser
ENST00000676835.1:c.*1219G>C	ENSP00000502911.1:n.*1219G>C
ENST00000677029.1:c.1548G>C	ENSP00000502936.1:p.Arg516Ser
ENST00000677099.1:c.*1714G>C	ENSP00000504553.1:n.*1714G>C
ENST00000677216.1:c.1653G>C	ENSP00000503772.1:p.Arg551Ser
ENST00000677221.1:n.1029G>C
ENST00000677295.1:c.*1226G>C	ENSP00000504346.1:n.*1226G>C
ENST00000677444.1:c.1949G>C
ENST00000677586.1:n.1371G>C
ENST00000677626.1:c.1653G>C	ENSP00000503552.1:p.Arg551Ser
ENST00000677853.1:c.*1012G>C	ENSP00000503488.1:n.*1012G>C
ENST00000678264.1:c.*1381G>C	ENSP00000503157.1:n.*1381G>C
ENST00000678303.1:c.1914G>C	ENSP00000503696.1:p.Arg638Ser
ENST00000678366.1:c.*2253G>C	ENSP00000504353.1:n.*2253G>C
ENST00000678546.1:c.*1949G>C	ENSP00000503062.1:n.*1949G>C
ENST00000678548.1:c.*2143G>C	ENSP00000503934.1:n.*2143G>C
ENST00000678626.1:n.1840G>C
ENST00000678739.1:c.*2170G>C	ENSP00000503806.1:n.*2170G>C
ENST00000678833.1:c.*1756G>C	ENSP00000503893.1:n.*1756G>C
ENST00000679023.1:c.1842G>C	ENSP00000503718.1:p.Arg614Ser
ENST00000679076.1:c.1623G>C
ENST00000679111.1:c.*760G>C	ENSP00000504257.1:n.*760G>C
ENST00000679189.1:c.1653G>C	ENSP00000503356.1:p.Arg551Ser
ENST00000341012.11:c.1842G>C	ENSP00000343034.7:p.Arg614Ser
ENST00000372220.4:c.867G>C	ENSP00000361294.4:p.Arg289Ser
ENST00000372228.7:c.2070G>C	ENSP00000361302.3:p.Arg690Ser
ENST00000402686.7:c.2004G>C	ENSP00000385797.3:p.Arg668Ser
ENST00000404875.6:c.1653G>C	ENSP00000384531.2:p.Arg551Ser
ENST00000423007.5:c.2004G>C	ENSP00000404119.1:p.Arg668Ser
ENST00000485278.5:n.2554G>C
NM_001077365.1:c.2004G>C	NP_001070833.1:p.Arg668Ser
NM_001077366.1:c.1842G>C	NP_001070834.1:p.Arg614Ser
NM_001136113.1:c.2004G>C	NP_001129585.1:p.Arg668Ser
NM_001136114.1:c.1653G>C	NP_001129586.1:p.Arg551Ser
NM_007171.3:c.2070G>C	NP_009102.3:p.Arg690Ser
XM_005272156.1:c.2070G>C	XP_005272213.1:p.Arg690Ser
XM_005272158.1:c.1908G>C	XP_005272215.1:p.Arg636Ser
XM_005272159.1:c.1719G>C	XP_005272216.1:p.Arg573Ser
XM_005272162.1:c.873G>C	XP_005272219.1:p.Arg291Ser
XM_006716932.1:c.1719G>C	XP_006716995.1:p.Arg573Ser
XM_011518140.1:c.1923G>C	XP_011516442.1:p.Arg641Ser
XM_011518141.1:c.1857G>C	XP_011516443.1:p.Arg619Ser
XM_011518142.1:c.1761G>C	XP_011516444.1:p.Arg587Ser
XM_011518143.1:c.1755G>C	XP_011516445.1:p.Arg585Ser
XM_011518145.1:c.1614G>C	XP_011516447.1:p.Arg538Ser
XM_011518147.1:c.942G>C	XP_011516449.1:p.Arg314Ser
XR_929703.1:n.2246G>C
NM_001353193.1:c.2070G>C	NP_001340122.1:p.Arg690Ser
NM_001353194.1:c.1842G>C	NP_001340123.1:p.Arg614Ser
NM_001353195.1:c.1653G>C	NP_001340124.1:p.Arg551Ser
NM_001353196.1:c.1914G>C	NP_001340125.1:p.Arg638Ser
NM_001353197.1:c.1908G>C	NP_001340126.1:p.Arg636Ser
NM_001353198.1:c.1908G>C	NP_001340127.1:p.Arg636Ser
NM_001353199.1:c.1719G>C	NP_001340128.1:p.Arg573Ser
NM_001353200.1:c.1548G>C	NP_001340129.1:p.Arg516Ser
NR_148391.1:n.2054G>C
NR_148392.1:n.2272G>C
NR_148393.1:n.2193G>C
NR_148394.1:n.1947G>C
NR_148395.1:n.2345G>C
NR_148396.1:n.1979G>C
NR_148397.1:n.2104G>C
NR_148398.1:n.2059G>C
NR_148399.1:n.2585G>C
NR_148400.1:n.2184G>C
XM_005272162.3:c.873G>C	XP_005272219.1:p.Arg291Ser
XM_006716932.2:c.1719G>C	XP_006716995.1:p.Arg573Ser
XM_011518140.2:c.1923G>C	XP_011516442.1:p.Arg641Ser
XM_011518141.2:c.1857G>C	XP_011516443.1:p.Arg619Ser
XM_011518142.2:c.1761G>C	XP_011516444.1:p.Arg587Ser
XM_011518143.2:c.1755G>C	XP_011516445.1:p.Arg585Ser
XM_011518145.2:c.1614G>C	XP_011516447.1:p.Arg538Ser
XM_017014205.2:c.873G>C	XP_016869694.1:p.Arg291Ser
XM_024447380.1:c.873G>C	XP_024303148.1:p.Arg291Ser
XM_024447381.1:c.1179G>C	XP_024303149.1:p.Arg393Ser
XM_024447382.1:c.873G>C	XP_024303150.1:p.Arg291Ser
XR_001746160.2:n.2174G>C
XR_001746162.2:n.2379G>C
XR_001746164.1:n.2096G>C
XR_001746166.2:n.2391G>C
NM_001077365.2:c.2004G>C MANE Select	NP_001070833.1:p.Arg668Ser
NM_001077366.2:c.1842G>C	NP_001070834.1:p.Arg614Ser
NM_001136113.2:c.2004G>C	NP_001129585.1:p.Arg668Ser
NM_001136114.2:c.1653G>C	NP_001129586.1:p.Arg551Ser
NM_001353193.2:c.2070G>C	NP_001340122.2:p.Arg690Ser
NM_001353194.2:c.1842G>C	NP_001340123.1:p.Arg614Ser
NM_001353195.2:c.1653G>C	NP_001340124.1:p.Arg551Ser
NM_001353196.2:c.1914G>C	NP_001340125.1:p.Arg638Ser
NM_001353197.2:c.1908G>C	NP_001340126.2:p.Arg636Ser
NM_001353198.2:c.1908G>C	NP_001340127.2:p.Arg636Ser
NM_001353199.2:c.1719G>C	NP_001340128.2:p.Arg573Ser
NM_001353200.2:c.1548G>C	NP_001340129.1:p.Arg516Ser
NM_001374689.1:c.1992G>C	NP_001361618.1:p.Arg664Ser
NM_001374690.1:c.1785G>C	NP_001361619.1:p.Arg595Ser
NM_001374691.1:c.1653G>C	NP_001361620.1:p.Arg551Ser
NM_001374692.1:c.1653G>C	NP_001361621.1:p.Arg551Ser
NM_001374693.1:c.1653G>C	NP_001361622.1:p.Arg551Ser
NM_001374695.1:c.1614G>C	NP_001361624.1:p.Arg538Ser
NM_007171.4:c.2070G>C	NP_009102.4:p.Arg690Ser
NR_148391.2:n.2038G>C
NR_148392.2:n.2256G>C
NR_148393.2:n.2177G>C
NR_148394.2:n.1931G>C
NR_148395.2:n.2329G>C
NR_148396.2:n.1963G>C
NR_148397.2:n.2088G>C
NR_148398.2:n.2043G>C
NR_148399.2:n.2569G>C
NR_148400.2:n.2168G>C

Linked Data

Genomic Alleles

Transcript Alleles