Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522073G>C , CM000671.2:g.131522073G>C	GRCh38
NC_000009.11:g.134397460G>C , CM000671.1:g.134397460G>C	GRCh37
NC_000009.10:g.133387281G>C	NCBI36
NG_008896.1:g.24172G>C
NG_008896.2:g.24172G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1690G>C	ENSP00000343034.7:p.Gly564Arg
ENST00000404875.7:n.2392G>C
ENST00000423007.6:c.1909G>C	ENSP00000404119.2:p.Gly637Arg
ENST00000677295.2:c.*2196G>C	ENSP00000504346.2:n.*2196G>C
ENST00000678264.2:c.*2035G>C	ENSP00000503157.2:n.*2035G>C
ENST00000682070.1:n.2291-129G>C
ENST00000682813.1:n.2256G>C
ENST00000683392.1:n.4573-129G>C
ENST00000683712.1:n.2257G>C
ENST00000683900.1:n.3752G>C
ENST00000684062.1:n.2518G>C
ENST00000684579.1:n.3698G>C
ENST00000684679.1:n.1079G>C
ENST00000341012.12:c.1690G>C	ENSP00000343034.7:p.Gly564Arg
ENST00000372220.5:c.721G>C	ENSP00000361294.5:p.Gly241Arg
ENST00000372228.9:c.1918G>C	ENSP00000361302.3:p.Gly640Arg
ENST00000402686.8:c.1852G>C MANE Select	ENSP00000385797.4:p.Gly618Arg
ENST00000676640.1:c.1852G>C	ENSP00000503281.1:p.Gly618Arg
ENST00000676803.1:c.913G>C	ENSP00000503093.1:p.Gly305Arg
ENST00000676835.1:c.*1067G>C	ENSP00000502911.1:n.*1067G>C
ENST00000677029.1:c.1396G>C	ENSP00000502936.1:p.Gly466Arg
ENST00000677099.1:c.*1562G>C	ENSP00000504553.1:n.*1562G>C
ENST00000677216.1:c.1501G>C	ENSP00000503772.1:p.Gly501Arg
ENST00000677221.1:n.877G>C
ENST00000677295.1:c.*1203-129G>C	ENSP00000504346.1:n.*1203-129G>C
ENST00000677444.1:c.1797G>C
ENST00000677586.1:n.1219G>C
ENST00000677626.1:c.1501G>C	ENSP00000503552.1:p.Gly501Arg
ENST00000677853.1:c.*860G>C	ENSP00000503488.1:n.*860G>C
ENST00000678202.1:n.1011G>C
ENST00000678264.1:c.*1229G>C	ENSP00000503157.1:n.*1229G>C
ENST00000678303.1:c.1762G>C	ENSP00000503696.1:p.Gly588Arg
ENST00000678366.1:c.*2101G>C	ENSP00000504353.1:n.*2101G>C
ENST00000678546.1:c.*1797G>C	ENSP00000503062.1:n.*1797G>C
ENST00000678548.1:c.*1991G>C	ENSP00000503934.1:n.*1991G>C
ENST00000678626.1:n.1688G>C
ENST00000678739.1:c.*2147-129G>C	ENSP00000503806.1:n.*2147-129G>C
ENST00000678833.1:c.*1604G>C	ENSP00000503893.1:n.*1604G>C
ENST00000679023.1:c.1690G>C	ENSP00000503718.1:p.Gly564Arg
ENST00000679076.1:c.1471G>C
ENST00000679111.1:c.*608G>C	ENSP00000504257.1:n.*608G>C
ENST00000679189.1:c.1501G>C	ENSP00000503356.1:p.Gly501Arg
ENST00000341012.11:c.1690G>C	ENSP00000343034.7:p.Gly564Arg
ENST00000372220.4:c.715G>C	ENSP00000361294.4:p.Gly239Arg
ENST00000372228.7:c.1918G>C	ENSP00000361302.3:p.Gly640Arg
ENST00000402686.7:c.1852G>C	ENSP00000385797.3:p.Gly618Arg
ENST00000404875.6:c.1501G>C	ENSP00000384531.2:p.Gly501Arg
ENST00000423007.5:c.1852G>C	ENSP00000404119.1:p.Gly618Arg
ENST00000485278.5:n.2402G>C
ENST00000494883.1:n.395G>C
NM_001077365.1:c.1852G>C	NP_001070833.1:p.Gly618Arg
NM_001077366.1:c.1690G>C	NP_001070834.1:p.Gly564Arg
NM_001136113.1:c.1852G>C	NP_001129585.1:p.Gly618Arg
NM_001136114.1:c.1501G>C	NP_001129586.1:p.Gly501Arg
NM_007171.3:c.1918G>C	NP_009102.3:p.Gly640Arg
XM_005272156.1:c.1918G>C	XP_005272213.1:p.Gly640Arg
XM_005272158.1:c.1756G>C	XP_005272215.1:p.Gly586Arg
XM_005272159.1:c.1567G>C	XP_005272216.1:p.Gly523Arg
XM_005272162.1:c.721G>C	XP_005272219.1:p.Gly241Arg
XM_006716932.1:c.1567G>C	XP_006716995.1:p.Gly523Arg
XM_011518140.1:c.1771G>C	XP_011516442.1:p.Gly591Arg
XM_011518141.1:c.1705G>C	XP_011516443.1:p.Gly569Arg
XM_011518142.1:c.1609G>C	XP_011516444.1:p.Gly537Arg
XM_011518143.1:c.1603G>C	XP_011516445.1:p.Gly535Arg
XM_011518145.1:c.1462G>C	XP_011516447.1:p.Gly488Arg
XM_011518147.1:c.790G>C	XP_011516449.1:p.Gly264Arg
XR_929703.1:n.2094G>C
NM_001353193.1:c.1918G>C	NP_001340122.1:p.Gly640Arg
NM_001353194.1:c.1690G>C	NP_001340123.1:p.Gly564Arg
NM_001353195.1:c.1501G>C	NP_001340124.1:p.Gly501Arg
NM_001353196.1:c.1762G>C	NP_001340125.1:p.Gly588Arg
NM_001353197.1:c.1756G>C	NP_001340126.1:p.Gly586Arg
NM_001353198.1:c.1756G>C	NP_001340127.1:p.Gly586Arg
NM_001353199.1:c.1567G>C	NP_001340128.1:p.Gly523Arg
NM_001353200.1:c.1396G>C	NP_001340129.1:p.Gly466Arg
NR_148391.1:n.1902G>C
NR_148392.1:n.2120G>C
NR_148393.1:n.2041G>C
NR_148394.1:n.1795G>C
NR_148395.1:n.2193G>C
NR_148396.1:n.1827G>C
NR_148397.1:n.1952G>C
NR_148398.1:n.1907G>C
NR_148399.1:n.2433G>C
NR_148400.1:n.2032G>C
XM_005272162.3:c.721G>C	XP_005272219.1:p.Gly241Arg
XM_006716932.2:c.1567G>C	XP_006716995.1:p.Gly523Arg
XM_011518140.2:c.1771G>C	XP_011516442.1:p.Gly591Arg
XM_011518141.2:c.1705G>C	XP_011516443.1:p.Gly569Arg
XM_011518142.2:c.1609G>C	XP_011516444.1:p.Gly537Arg
XM_011518143.2:c.1603G>C	XP_011516445.1:p.Gly535Arg
XM_011518145.2:c.1462G>C	XP_011516447.1:p.Gly488Arg
XM_017014205.2:c.721G>C	XP_016869694.1:p.Gly241Arg
XM_024447380.1:c.721G>C	XP_024303148.1:p.Gly241Arg
XM_024447381.1:c.1027G>C	XP_024303149.1:p.Gly343Arg
XM_024447382.1:c.721G>C	XP_024303150.1:p.Gly241Arg
XR_001746160.2:n.2022G>C
XR_001746162.2:n.2227G>C
XR_001746164.1:n.1944G>C
XR_001746166.2:n.2239G>C
NM_001077365.2:c.1852G>C MANE Select	NP_001070833.1:p.Gly618Arg
NM_001077366.2:c.1690G>C	NP_001070834.1:p.Gly564Arg
NM_001136113.2:c.1852G>C	NP_001129585.1:p.Gly618Arg
NM_001136114.2:c.1501G>C	NP_001129586.1:p.Gly501Arg
NM_001353193.2:c.1918G>C	NP_001340122.2:p.Gly640Arg
NM_001353194.2:c.1690G>C	NP_001340123.1:p.Gly564Arg
NM_001353195.2:c.1501G>C	NP_001340124.1:p.Gly501Arg
NM_001353196.2:c.1762G>C	NP_001340125.1:p.Gly588Arg
NM_001353197.2:c.1756G>C	NP_001340126.2:p.Gly586Arg
NM_001353198.2:c.1756G>C	NP_001340127.2:p.Gly586Arg
NM_001353199.2:c.1567G>C	NP_001340128.2:p.Gly523Arg
NM_001353200.2:c.1396G>C	NP_001340129.1:p.Gly466Arg
NM_001374689.1:c.1840G>C	NP_001361618.1:p.Gly614Arg
NM_001374690.1:c.1633G>C	NP_001361619.1:p.Gly545Arg
NM_001374691.1:c.1501G>C	NP_001361620.1:p.Gly501Arg
NM_001374692.1:c.1501G>C	NP_001361621.1:p.Gly501Arg
NM_001374693.1:c.1501G>C	NP_001361622.1:p.Gly501Arg
NM_001374695.1:c.1462G>C	NP_001361624.1:p.Gly488Arg
NM_007171.4:c.1918G>C	NP_009102.4:p.Gly640Arg
NR_148391.2:n.1886G>C
NR_148392.2:n.2104G>C
NR_148393.2:n.2025G>C
NR_148394.2:n.1779G>C
NR_148395.2:n.2177G>C
NR_148396.2:n.1811G>C
NR_148397.2:n.1936G>C
NR_148398.2:n.1891G>C
NR_148399.2:n.2417G>C
NR_148400.2:n.2016G>C

Linked Data

Genomic Alleles

Transcript Alleles