Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522981T>A , CM000671.2:g.131522981T>A	GRCh38
NC_000009.11:g.134398368T>A , CM000671.1:g.134398368T>A	GRCh37
NC_000009.10:g.133388189T>A	NCBI36
NG_008896.1:g.25080T>A
NG_008896.2:g.25080T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1891T>A	ENSP00000343034.7:p.Ser631Thr
ENST00000404875.7:n.2593T>A
ENST00000423007.6:c.2110T>A	ENSP00000404119.2:p.Ser704Thr
ENST00000677295.2:c.*2397T>A	ENSP00000504346.2:n.*2397T>A
ENST00000678264.2:c.*2236T>A	ENSP00000503157.2:n.*2236T>A
ENST00000682070.1:n.2363T>A
ENST00000682639.1:c.50T>A
ENST00000682813.1:n.2450T>A
ENST00000683231.1:c.50T>A
ENST00000683392.1:n.4645T>A
ENST00000683712.1:n.2458T>A
ENST00000683900.1:n.3953T>A
ENST00000684062.1:n.2719T>A
ENST00000684399.1:c.50T>A
ENST00000684579.1:n.3899T>A
ENST00000341012.12:c.1891T>A	ENSP00000343034.7:p.Ser631Thr
ENST00000372220.5:c.922T>A	ENSP00000361294.5:p.Ser308Thr
ENST00000372228.9:c.2119T>A	ENSP00000361302.3:p.Ser707Thr
ENST00000402686.8:c.2053T>A MANE Select	ENSP00000385797.4:p.Ser685Thr
ENST00000676640.1:c.2053T>A	ENSP00000503281.1:p.Ser685Thr
ENST00000676803.1:c.1114T>A	ENSP00000503093.1:p.Ser372Thr
ENST00000676835.1:c.*1268T>A	ENSP00000502911.1:n.*1268T>A
ENST00000677029.1:c.1597T>A	ENSP00000502936.1:p.Ser533Thr
ENST00000677099.1:c.*1763T>A	ENSP00000504553.1:n.*1763T>A
ENST00000677216.1:c.1702T>A	ENSP00000503772.1:p.Ser568Thr
ENST00000677221.1:n.1078T>A
ENST00000677295.1:c.*1275T>A	ENSP00000504346.1:n.*1275T>A
ENST00000677444.1:c.1998T>A
ENST00000677586.1:n.1420T>A
ENST00000677626.1:c.1702T>A	ENSP00000503552.1:p.Ser568Thr
ENST00000677853.1:c.*1061T>A	ENSP00000503488.1:n.*1061T>A
ENST00000678264.1:c.*1430T>A	ENSP00000503157.1:n.*1430T>A
ENST00000678303.1:c.1963T>A	ENSP00000503696.1:p.Ser655Thr
ENST00000678366.1:c.*2302T>A	ENSP00000504353.1:n.*2302T>A
ENST00000678546.1:c.*1998T>A	ENSP00000503062.1:n.*1998T>A
ENST00000678548.1:c.*2192T>A	ENSP00000503934.1:n.*2192T>A
ENST00000678626.1:n.1889T>A
ENST00000678739.1:c.*2219T>A	ENSP00000503806.1:n.*2219T>A
ENST00000678833.1:c.*1805T>A	ENSP00000503893.1:n.*1805T>A
ENST00000679023.1:c.1891T>A	ENSP00000503718.1:p.Ser631Thr
ENST00000679076.1:c.1672T>A
ENST00000679111.1:c.*809T>A	ENSP00000504257.1:n.*809T>A
ENST00000679189.1:c.1702T>A	ENSP00000503356.1:p.Ser568Thr
ENST00000341012.11:c.1891T>A	ENSP00000343034.7:p.Ser631Thr
ENST00000372220.4:c.916T>A	ENSP00000361294.4:p.Ser306Thr
ENST00000372228.7:c.2119T>A	ENSP00000361302.3:p.Ser707Thr
ENST00000402686.7:c.2053T>A	ENSP00000385797.3:p.Ser685Thr
ENST00000404875.6:c.1702T>A	ENSP00000384531.2:p.Ser568Thr
ENST00000423007.5:c.2053T>A	ENSP00000404119.1:p.Ser685Thr
ENST00000485278.5:n.2603T>A
NM_001077365.1:c.2053T>A	NP_001070833.1:p.Ser685Thr
NM_001077366.1:c.1891T>A	NP_001070834.1:p.Ser631Thr
NM_001136113.1:c.2053T>A	NP_001129585.1:p.Ser685Thr
NM_001136114.1:c.1702T>A	NP_001129586.1:p.Ser568Thr
NM_007171.3:c.2119T>A	NP_009102.3:p.Ser707Thr
XM_005272156.1:c.2119T>A	XP_005272213.1:p.Ser707Thr
XM_005272158.1:c.1957T>A	XP_005272215.1:p.Ser653Thr
XM_005272159.1:c.1768T>A	XP_005272216.1:p.Ser590Thr
XM_005272162.1:c.922T>A	XP_005272219.1:p.Ser308Thr
XM_006716932.1:c.1768T>A	XP_006716995.1:p.Ser590Thr
XM_011518140.1:c.1972T>A	XP_011516442.1:p.Ser658Thr
XM_011518141.1:c.1906T>A	XP_011516443.1:p.Ser636Thr
XM_011518142.1:c.1810T>A	XP_011516444.1:p.Ser604Thr
XM_011518143.1:c.1804T>A	XP_011516445.1:p.Ser602Thr
XM_011518145.1:c.1663T>A	XP_011516447.1:p.Ser555Thr
XM_011518147.1:c.991T>A	XP_011516449.1:p.Ser331Thr
XR_929703.1:n.2295T>A
NM_001353193.1:c.2119T>A	NP_001340122.1:p.Ser707Thr
NM_001353194.1:c.1891T>A	NP_001340123.1:p.Ser631Thr
NM_001353195.1:c.1702T>A	NP_001340124.1:p.Ser568Thr
NM_001353196.1:c.1963T>A	NP_001340125.1:p.Ser655Thr
NM_001353197.1:c.1957T>A	NP_001340126.1:p.Ser653Thr
NM_001353198.1:c.1957T>A	NP_001340127.1:p.Ser653Thr
NM_001353199.1:c.1768T>A	NP_001340128.1:p.Ser590Thr
NM_001353200.1:c.1597T>A	NP_001340129.1:p.Ser533Thr
NR_148391.1:n.2103T>A
NR_148392.1:n.2321T>A
NR_148393.1:n.2242T>A
NR_148394.1:n.1996T>A
NR_148395.1:n.2394T>A
NR_148396.1:n.2028T>A
NR_148397.1:n.2153T>A
NR_148398.1:n.2108T>A
NR_148399.1:n.2634T>A
NR_148400.1:n.2233T>A
XM_005272162.3:c.922T>A	XP_005272219.1:p.Ser308Thr
XM_006716932.2:c.1768T>A	XP_006716995.1:p.Ser590Thr
XM_011518140.2:c.1972T>A	XP_011516442.1:p.Ser658Thr
XM_011518141.2:c.1906T>A	XP_011516443.1:p.Ser636Thr
XM_011518142.2:c.1810T>A	XP_011516444.1:p.Ser604Thr
XM_011518143.2:c.1804T>A	XP_011516445.1:p.Ser602Thr
XM_011518145.2:c.1663T>A	XP_011516447.1:p.Ser555Thr
XM_017014205.2:c.922T>A	XP_016869694.1:p.Ser308Thr
XM_024447380.1:c.922T>A	XP_024303148.1:p.Ser308Thr
XM_024447381.1:c.1228T>A	XP_024303149.1:p.Ser410Thr
XM_024447382.1:c.922T>A	XP_024303150.1:p.Ser308Thr
XR_001746160.2:n.2223T>A
XR_001746162.2:n.2428T>A
XR_001746164.1:n.2145T>A
XR_001746166.2:n.2440T>A
NM_001077365.2:c.2053T>A MANE Select	NP_001070833.1:p.Ser685Thr
NM_001077366.2:c.1891T>A	NP_001070834.1:p.Ser631Thr
NM_001136113.2:c.2053T>A	NP_001129585.1:p.Ser685Thr
NM_001136114.2:c.1702T>A	NP_001129586.1:p.Ser568Thr
NM_001353193.2:c.2119T>A	NP_001340122.2:p.Ser707Thr
NM_001353194.2:c.1891T>A	NP_001340123.1:p.Ser631Thr
NM_001353195.2:c.1702T>A	NP_001340124.1:p.Ser568Thr
NM_001353196.2:c.1963T>A	NP_001340125.1:p.Ser655Thr
NM_001353197.2:c.1957T>A	NP_001340126.2:p.Ser653Thr
NM_001353198.2:c.1957T>A	NP_001340127.2:p.Ser653Thr
NM_001353199.2:c.1768T>A	NP_001340128.2:p.Ser590Thr
NM_001353200.2:c.1597T>A	NP_001340129.1:p.Ser533Thr
NM_001374689.1:c.2041T>A	NP_001361618.1:p.Ser681Thr
NM_001374690.1:c.1834T>A	NP_001361619.1:p.Ser612Thr
NM_001374691.1:c.1702T>A	NP_001361620.1:p.Ser568Thr
NM_001374692.1:c.1702T>A	NP_001361621.1:p.Ser568Thr
NM_001374693.1:c.1702T>A	NP_001361622.1:p.Ser568Thr
NM_001374695.1:c.1663T>A	NP_001361624.1:p.Ser555Thr
NM_007171.4:c.2119T>A	NP_009102.4:p.Ser707Thr
NR_148391.2:n.2087T>A
NR_148392.2:n.2305T>A
NR_148393.2:n.2226T>A
NR_148394.2:n.1980T>A
NR_148395.2:n.2378T>A
NR_148396.2:n.2012T>A
NR_148397.2:n.2137T>A
NR_148398.2:n.2092T>A
NR_148399.2:n.2618T>A
NR_148400.2:n.2217T>A

Linked Data

Genomic Alleles

Transcript Alleles