Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522062G>C , CM000671.2:g.131522062G>C	GRCh38
NC_000009.11:g.134397449G>C , CM000671.1:g.134397449G>C	GRCh37
NC_000009.10:g.133387270G>C	NCBI36
NG_008896.1:g.24161G>C
NG_008896.2:g.24161G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1679G>C	ENSP00000343034.7:p.Trp560Ser
ENST00000404875.7:n.2381G>C
ENST00000423007.6:c.1898G>C	ENSP00000404119.2:p.Trp633Ser
ENST00000677295.2:c.*2185G>C	ENSP00000504346.2:n.*2185G>C
ENST00000678264.2:c.*2024G>C	ENSP00000503157.2:n.*2024G>C
ENST00000682070.1:n.2291-140G>C
ENST00000682813.1:n.2245G>C
ENST00000683392.1:n.4573-140G>C
ENST00000683712.1:n.2246G>C
ENST00000683900.1:n.3741G>C
ENST00000684062.1:n.2507G>C
ENST00000684579.1:n.3687G>C
ENST00000684679.1:n.1068G>C
ENST00000341012.12:c.1679G>C	ENSP00000343034.7:p.Trp560Ser
ENST00000372220.5:c.710G>C	ENSP00000361294.5:p.Trp237Ser
ENST00000372228.9:c.1907G>C	ENSP00000361302.3:p.Trp636Ser
ENST00000402686.8:c.1841G>C MANE Select	ENSP00000385797.4:p.Trp614Ser
ENST00000676640.1:c.1841G>C	ENSP00000503281.1:p.Trp614Ser
ENST00000676803.1:c.902G>C	ENSP00000503093.1:p.Trp301Ser
ENST00000676835.1:c.*1056G>C	ENSP00000502911.1:n.*1056G>C
ENST00000677029.1:c.1385G>C	ENSP00000502936.1:p.Trp462Ser
ENST00000677099.1:c.*1551G>C	ENSP00000504553.1:n.*1551G>C
ENST00000677216.1:c.1490G>C	ENSP00000503772.1:p.Trp497Ser
ENST00000677221.1:n.866G>C
ENST00000677295.1:c.*1203-140G>C	ENSP00000504346.1:n.*1203-140G>C
ENST00000677444.1:c.1786G>C
ENST00000677586.1:n.1208G>C
ENST00000677626.1:c.1490G>C	ENSP00000503552.1:p.Trp497Ser
ENST00000677853.1:c.*849G>C	ENSP00000503488.1:n.*849G>C
ENST00000678202.1:n.1000G>C
ENST00000678264.1:c.*1218G>C	ENSP00000503157.1:n.*1218G>C
ENST00000678303.1:c.1751G>C	ENSP00000503696.1:p.Trp584Ser
ENST00000678366.1:c.*2090G>C	ENSP00000504353.1:n.*2090G>C
ENST00000678546.1:c.*1786G>C	ENSP00000503062.1:n.*1786G>C
ENST00000678548.1:c.*1980G>C	ENSP00000503934.1:n.*1980G>C
ENST00000678626.1:n.1677G>C
ENST00000678739.1:c.*2147-140G>C	ENSP00000503806.1:n.*2147-140G>C
ENST00000678833.1:c.*1593G>C	ENSP00000503893.1:n.*1593G>C
ENST00000679023.1:c.1679G>C	ENSP00000503718.1:p.Trp560Ser
ENST00000679076.1:c.1460G>C
ENST00000679111.1:c.*597G>C	ENSP00000504257.1:n.*597G>C
ENST00000679189.1:c.1490G>C	ENSP00000503356.1:p.Trp497Ser
ENST00000341012.11:c.1679G>C	ENSP00000343034.7:p.Trp560Ser
ENST00000372220.4:c.704G>C	ENSP00000361294.4:p.Trp235Ser
ENST00000372228.7:c.1907G>C	ENSP00000361302.3:p.Trp636Ser
ENST00000402686.7:c.1841G>C	ENSP00000385797.3:p.Trp614Ser
ENST00000404875.6:c.1490G>C	ENSP00000384531.2:p.Trp497Ser
ENST00000423007.5:c.1841G>C	ENSP00000404119.1:p.Trp614Ser
ENST00000485278.5:n.2391G>C
ENST00000494883.1:n.384G>C
NM_001077365.1:c.1841G>C	NP_001070833.1:p.Trp614Ser
NM_001077366.1:c.1679G>C	NP_001070834.1:p.Trp560Ser
NM_001136113.1:c.1841G>C	NP_001129585.1:p.Trp614Ser
NM_001136114.1:c.1490G>C	NP_001129586.1:p.Trp497Ser
NM_007171.3:c.1907G>C	NP_009102.3:p.Trp636Ser
XM_005272156.1:c.1907G>C	XP_005272213.1:p.Trp636Ser
XM_005272158.1:c.1745G>C	XP_005272215.1:p.Trp582Ser
XM_005272159.1:c.1556G>C	XP_005272216.1:p.Trp519Ser
XM_005272162.1:c.710G>C	XP_005272219.1:p.Trp237Ser
XM_006716932.1:c.1556G>C	XP_006716995.1:p.Trp519Ser
XM_011518140.1:c.1760G>C	XP_011516442.1:p.Trp587Ser
XM_011518141.1:c.1694G>C	XP_011516443.1:p.Trp565Ser
XM_011518142.1:c.1598G>C	XP_011516444.1:p.Trp533Ser
XM_011518143.1:c.1592G>C	XP_011516445.1:p.Trp531Ser
XM_011518145.1:c.1451G>C	XP_011516447.1:p.Trp484Ser
XM_011518147.1:c.779G>C	XP_011516449.1:p.Trp260Ser
XR_929703.1:n.2083G>C
NM_001353193.1:c.1907G>C	NP_001340122.1:p.Trp636Ser
NM_001353194.1:c.1679G>C	NP_001340123.1:p.Trp560Ser
NM_001353195.1:c.1490G>C	NP_001340124.1:p.Trp497Ser
NM_001353196.1:c.1751G>C	NP_001340125.1:p.Trp584Ser
NM_001353197.1:c.1745G>C	NP_001340126.1:p.Trp582Ser
NM_001353198.1:c.1745G>C	NP_001340127.1:p.Trp582Ser
NM_001353199.1:c.1556G>C	NP_001340128.1:p.Trp519Ser
NM_001353200.1:c.1385G>C	NP_001340129.1:p.Trp462Ser
NR_148391.1:n.1891G>C
NR_148392.1:n.2109G>C
NR_148393.1:n.2030G>C
NR_148394.1:n.1784G>C
NR_148395.1:n.2182G>C
NR_148396.1:n.1816G>C
NR_148397.1:n.1941G>C
NR_148398.1:n.1896G>C
NR_148399.1:n.2422G>C
NR_148400.1:n.2021G>C
XM_005272162.3:c.710G>C	XP_005272219.1:p.Trp237Ser
XM_006716932.2:c.1556G>C	XP_006716995.1:p.Trp519Ser
XM_011518140.2:c.1760G>C	XP_011516442.1:p.Trp587Ser
XM_011518141.2:c.1694G>C	XP_011516443.1:p.Trp565Ser
XM_011518142.2:c.1598G>C	XP_011516444.1:p.Trp533Ser
XM_011518143.2:c.1592G>C	XP_011516445.1:p.Trp531Ser
XM_011518145.2:c.1451G>C	XP_011516447.1:p.Trp484Ser
XM_017014205.2:c.710G>C	XP_016869694.1:p.Trp237Ser
XM_024447380.1:c.710G>C	XP_024303148.1:p.Trp237Ser
XM_024447381.1:c.1016G>C	XP_024303149.1:p.Trp339Ser
XM_024447382.1:c.710G>C	XP_024303150.1:p.Trp237Ser
XR_001746160.2:n.2011G>C
XR_001746162.2:n.2216G>C
XR_001746164.1:n.1933G>C
XR_001746166.2:n.2228G>C
NM_001077365.2:c.1841G>C MANE Select	NP_001070833.1:p.Trp614Ser
NM_001077366.2:c.1679G>C	NP_001070834.1:p.Trp560Ser
NM_001136113.2:c.1841G>C	NP_001129585.1:p.Trp614Ser
NM_001136114.2:c.1490G>C	NP_001129586.1:p.Trp497Ser
NM_001353193.2:c.1907G>C	NP_001340122.2:p.Trp636Ser
NM_001353194.2:c.1679G>C	NP_001340123.1:p.Trp560Ser
NM_001353195.2:c.1490G>C	NP_001340124.1:p.Trp497Ser
NM_001353196.2:c.1751G>C	NP_001340125.1:p.Trp584Ser
NM_001353197.2:c.1745G>C	NP_001340126.2:p.Trp582Ser
NM_001353198.2:c.1745G>C	NP_001340127.2:p.Trp582Ser
NM_001353199.2:c.1556G>C	NP_001340128.2:p.Trp519Ser
NM_001353200.2:c.1385G>C	NP_001340129.1:p.Trp462Ser
NM_001374689.1:c.1829G>C	NP_001361618.1:p.Trp610Ser
NM_001374690.1:c.1622G>C	NP_001361619.1:p.Trp541Ser
NM_001374691.1:c.1490G>C	NP_001361620.1:p.Trp497Ser
NM_001374692.1:c.1490G>C	NP_001361621.1:p.Trp497Ser
NM_001374693.1:c.1490G>C	NP_001361622.1:p.Trp497Ser
NM_001374695.1:c.1451G>C	NP_001361624.1:p.Trp484Ser
NM_007171.4:c.1907G>C	NP_009102.4:p.Trp636Ser
NR_148391.2:n.1875G>C
NR_148392.2:n.2093G>C
NR_148393.2:n.2014G>C
NR_148394.2:n.1768G>C
NR_148395.2:n.2166G>C
NR_148396.2:n.1800G>C
NR_148397.2:n.1925G>C
NR_148398.2:n.1880G>C
NR_148399.2:n.2406G>C
NR_148400.2:n.2005G>C

Linked Data

Genomic Alleles

Transcript Alleles