Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522957A>C , CM000671.2:g.131522957A>C	GRCh38
NC_000009.11:g.134398344A>C , CM000671.1:g.134398344A>C	GRCh37
NC_000009.10:g.133388165A>C	NCBI36
NG_008896.1:g.25056A>C
NG_008896.2:g.25056A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1867A>C	ENSP00000343034.7:p.Ser623Arg
ENST00000404875.7:n.2569A>C
ENST00000423007.6:c.2086A>C	ENSP00000404119.2:p.Ser696Arg
ENST00000677295.2:c.*2373A>C	ENSP00000504346.2:n.*2373A>C
ENST00000678264.2:c.*2212A>C	ENSP00000503157.2:n.*2212A>C
ENST00000682070.1:n.2339A>C
ENST00000682639.1:c.26A>C
ENST00000682813.1:n.2426A>C
ENST00000683231.1:c.26A>C
ENST00000683392.1:n.4621A>C
ENST00000683712.1:n.2434A>C
ENST00000683900.1:n.3929A>C
ENST00000684062.1:n.2695A>C
ENST00000684399.1:c.26A>C
ENST00000684579.1:n.3875A>C
ENST00000341012.12:c.1867A>C	ENSP00000343034.7:p.Ser623Arg
ENST00000372220.5:c.898A>C	ENSP00000361294.5:p.Ser300Arg
ENST00000372228.9:c.2095A>C	ENSP00000361302.3:p.Ser699Arg
ENST00000402686.8:c.2029A>C MANE Select	ENSP00000385797.4:p.Ser677Arg
ENST00000676640.1:c.2029A>C	ENSP00000503281.1:p.Ser677Arg
ENST00000676803.1:c.1090A>C	ENSP00000503093.1:p.Ser364Arg
ENST00000676835.1:c.*1244A>C	ENSP00000502911.1:n.*1244A>C
ENST00000677029.1:c.1573A>C	ENSP00000502936.1:p.Ser525Arg
ENST00000677099.1:c.*1739A>C	ENSP00000504553.1:n.*1739A>C
ENST00000677216.1:c.1678A>C	ENSP00000503772.1:p.Ser560Arg
ENST00000677221.1:n.1054A>C
ENST00000677295.1:c.*1251A>C	ENSP00000504346.1:n.*1251A>C
ENST00000677444.1:c.1974A>C
ENST00000677586.1:n.1396A>C
ENST00000677626.1:c.1678A>C	ENSP00000503552.1:p.Ser560Arg
ENST00000677853.1:c.*1037A>C	ENSP00000503488.1:n.*1037A>C
ENST00000678264.1:c.*1406A>C	ENSP00000503157.1:n.*1406A>C
ENST00000678303.1:c.1939A>C	ENSP00000503696.1:p.Ser647Arg
ENST00000678366.1:c.*2278A>C	ENSP00000504353.1:n.*2278A>C
ENST00000678546.1:c.*1974A>C	ENSP00000503062.1:n.*1974A>C
ENST00000678548.1:c.*2168A>C	ENSP00000503934.1:n.*2168A>C
ENST00000678626.1:n.1865A>C
ENST00000678739.1:c.*2195A>C	ENSP00000503806.1:n.*2195A>C
ENST00000678833.1:c.*1781A>C	ENSP00000503893.1:n.*1781A>C
ENST00000679023.1:c.1867A>C	ENSP00000503718.1:p.Ser623Arg
ENST00000679076.1:c.1648A>C
ENST00000679111.1:c.*785A>C	ENSP00000504257.1:n.*785A>C
ENST00000679189.1:c.1678A>C	ENSP00000503356.1:p.Ser560Arg
ENST00000341012.11:c.1867A>C	ENSP00000343034.7:p.Ser623Arg
ENST00000372220.4:c.892A>C	ENSP00000361294.4:p.Ser298Arg
ENST00000372228.7:c.2095A>C	ENSP00000361302.3:p.Ser699Arg
ENST00000402686.7:c.2029A>C	ENSP00000385797.3:p.Ser677Arg
ENST00000404875.6:c.1678A>C	ENSP00000384531.2:p.Ser560Arg
ENST00000423007.5:c.2029A>C	ENSP00000404119.1:p.Ser677Arg
ENST00000485278.5:n.2579A>C
NM_001077365.1:c.2029A>C	NP_001070833.1:p.Ser677Arg
NM_001077366.1:c.1867A>C	NP_001070834.1:p.Ser623Arg
NM_001136113.1:c.2029A>C	NP_001129585.1:p.Ser677Arg
NM_001136114.1:c.1678A>C	NP_001129586.1:p.Ser560Arg
NM_007171.3:c.2095A>C	NP_009102.3:p.Ser699Arg
XM_005272156.1:c.2095A>C	XP_005272213.1:p.Ser699Arg
XM_005272158.1:c.1933A>C	XP_005272215.1:p.Ser645Arg
XM_005272159.1:c.1744A>C	XP_005272216.1:p.Ser582Arg
XM_005272162.1:c.898A>C	XP_005272219.1:p.Ser300Arg
XM_006716932.1:c.1744A>C	XP_006716995.1:p.Ser582Arg
XM_011518140.1:c.1948A>C	XP_011516442.1:p.Ser650Arg
XM_011518141.1:c.1882A>C	XP_011516443.1:p.Ser628Arg
XM_011518142.1:c.1786A>C	XP_011516444.1:p.Ser596Arg
XM_011518143.1:c.1780A>C	XP_011516445.1:p.Ser594Arg
XM_011518145.1:c.1639A>C	XP_011516447.1:p.Ser547Arg
XM_011518147.1:c.967A>C	XP_011516449.1:p.Ser323Arg
XR_929703.1:n.2271A>C
NM_001353193.1:c.2095A>C	NP_001340122.1:p.Ser699Arg
NM_001353194.1:c.1867A>C	NP_001340123.1:p.Ser623Arg
NM_001353195.1:c.1678A>C	NP_001340124.1:p.Ser560Arg
NM_001353196.1:c.1939A>C	NP_001340125.1:p.Ser647Arg
NM_001353197.1:c.1933A>C	NP_001340126.1:p.Ser645Arg
NM_001353198.1:c.1933A>C	NP_001340127.1:p.Ser645Arg
NM_001353199.1:c.1744A>C	NP_001340128.1:p.Ser582Arg
NM_001353200.1:c.1573A>C	NP_001340129.1:p.Ser525Arg
NR_148391.1:n.2079A>C
NR_148392.1:n.2297A>C
NR_148393.1:n.2218A>C
NR_148394.1:n.1972A>C
NR_148395.1:n.2370A>C
NR_148396.1:n.2004A>C
NR_148397.1:n.2129A>C
NR_148398.1:n.2084A>C
NR_148399.1:n.2610A>C
NR_148400.1:n.2209A>C
XM_005272162.3:c.898A>C	XP_005272219.1:p.Ser300Arg
XM_006716932.2:c.1744A>C	XP_006716995.1:p.Ser582Arg
XM_011518140.2:c.1948A>C	XP_011516442.1:p.Ser650Arg
XM_011518141.2:c.1882A>C	XP_011516443.1:p.Ser628Arg
XM_011518142.2:c.1786A>C	XP_011516444.1:p.Ser596Arg
XM_011518143.2:c.1780A>C	XP_011516445.1:p.Ser594Arg
XM_011518145.2:c.1639A>C	XP_011516447.1:p.Ser547Arg
XM_017014205.2:c.898A>C	XP_016869694.1:p.Ser300Arg
XM_024447380.1:c.898A>C	XP_024303148.1:p.Ser300Arg
XM_024447381.1:c.1204A>C	XP_024303149.1:p.Ser402Arg
XM_024447382.1:c.898A>C	XP_024303150.1:p.Ser300Arg
XR_001746160.2:n.2199A>C
XR_001746162.2:n.2404A>C
XR_001746164.1:n.2121A>C
XR_001746166.2:n.2416A>C
NM_001077365.2:c.2029A>C MANE Select	NP_001070833.1:p.Ser677Arg
NM_001077366.2:c.1867A>C	NP_001070834.1:p.Ser623Arg
NM_001136113.2:c.2029A>C	NP_001129585.1:p.Ser677Arg
NM_001136114.2:c.1678A>C	NP_001129586.1:p.Ser560Arg
NM_001353193.2:c.2095A>C	NP_001340122.2:p.Ser699Arg
NM_001353194.2:c.1867A>C	NP_001340123.1:p.Ser623Arg
NM_001353195.2:c.1678A>C	NP_001340124.1:p.Ser560Arg
NM_001353196.2:c.1939A>C	NP_001340125.1:p.Ser647Arg
NM_001353197.2:c.1933A>C	NP_001340126.2:p.Ser645Arg
NM_001353198.2:c.1933A>C	NP_001340127.2:p.Ser645Arg
NM_001353199.2:c.1744A>C	NP_001340128.2:p.Ser582Arg
NM_001353200.2:c.1573A>C	NP_001340129.1:p.Ser525Arg
NM_001374689.1:c.2017A>C	NP_001361618.1:p.Ser673Arg
NM_001374690.1:c.1810A>C	NP_001361619.1:p.Ser604Arg
NM_001374691.1:c.1678A>C	NP_001361620.1:p.Ser560Arg
NM_001374692.1:c.1678A>C	NP_001361621.1:p.Ser560Arg
NM_001374693.1:c.1678A>C	NP_001361622.1:p.Ser560Arg
NM_001374695.1:c.1639A>C	NP_001361624.1:p.Ser547Arg
NM_007171.4:c.2095A>C	NP_009102.4:p.Ser699Arg
NR_148391.2:n.2063A>C
NR_148392.2:n.2281A>C
NR_148393.2:n.2202A>C
NR_148394.2:n.1956A>C
NR_148395.2:n.2354A>C
NR_148396.2:n.1988A>C
NR_148397.2:n.2113A>C
NR_148398.2:n.2068A>C
NR_148399.2:n.2594A>C
NR_148400.2:n.2193A>C

Linked Data

Genomic Alleles

Transcript Alleles