Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522169T>C , CM000671.2:g.131522169T>C	GRCh38
NC_000009.11:g.134397556T>C , CM000671.1:g.134397556T>C	GRCh37
NC_000009.10:g.133387377T>C	NCBI36
NG_008896.1:g.24268T>C
NG_008896.2:g.24268T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1786T>C	ENSP00000343034.7:p.Phe596Leu
ENST00000404875.7:n.2488T>C
ENST00000423007.6:c.2005T>C	ENSP00000404119.2:p.Phe669Leu
ENST00000677295.2:c.*2292T>C	ENSP00000504346.2:n.*2292T>C
ENST00000678264.2:c.*2131T>C	ENSP00000503157.2:n.*2131T>C
ENST00000682070.1:n.2291-33T>C
ENST00000682813.1:n.2352T>C
ENST00000683392.1:n.4573-33T>C
ENST00000683712.1:n.2353T>C
ENST00000683900.1:n.3848T>C
ENST00000684062.1:n.2614T>C
ENST00000684579.1:n.3794T>C
ENST00000684679.1:n.1175T>C
ENST00000341012.12:c.1786T>C	ENSP00000343034.7:p.Phe596Leu
ENST00000372220.5:c.817T>C	ENSP00000361294.5:p.Phe273Leu
ENST00000372228.9:c.2014T>C	ENSP00000361302.3:p.Phe672Leu
ENST00000402686.8:c.1948T>C MANE Select	ENSP00000385797.4:p.Phe650Leu
ENST00000676640.1:c.1948T>C	ENSP00000503281.1:p.Phe650Leu
ENST00000676803.1:c.1009T>C	ENSP00000503093.1:p.Phe337Leu
ENST00000676835.1:c.*1163T>C	ENSP00000502911.1:n.*1163T>C
ENST00000677029.1:c.1492T>C	ENSP00000502936.1:p.Phe498Leu
ENST00000677099.1:c.*1658T>C	ENSP00000504553.1:n.*1658T>C
ENST00000677216.1:c.1597T>C	ENSP00000503772.1:p.Phe533Leu
ENST00000677221.1:n.973T>C
ENST00000677295.1:c.*1203-33T>C	ENSP00000504346.1:n.*1203-33T>C
ENST00000677444.1:c.1893T>C
ENST00000677586.1:n.1315T>C
ENST00000677626.1:c.1597T>C	ENSP00000503552.1:p.Phe533Leu
ENST00000677853.1:c.*956T>C	ENSP00000503488.1:n.*956T>C
ENST00000678202.1:n.1107T>C
ENST00000678264.1:c.*1325T>C	ENSP00000503157.1:n.*1325T>C
ENST00000678303.1:c.1858T>C	ENSP00000503696.1:p.Phe620Leu
ENST00000678366.1:c.*2197T>C	ENSP00000504353.1:n.*2197T>C
ENST00000678546.1:c.*1893T>C	ENSP00000503062.1:n.*1893T>C
ENST00000678548.1:c.*2087T>C	ENSP00000503934.1:n.*2087T>C
ENST00000678626.1:n.1784T>C
ENST00000678739.1:c.*2147-33T>C	ENSP00000503806.1:n.*2147-33T>C
ENST00000678833.1:c.*1700T>C	ENSP00000503893.1:n.*1700T>C
ENST00000679023.1:c.1786T>C	ENSP00000503718.1:p.Phe596Leu
ENST00000679076.1:c.1567T>C
ENST00000679111.1:c.*704T>C	ENSP00000504257.1:n.*704T>C
ENST00000679189.1:c.1597T>C	ENSP00000503356.1:p.Phe533Leu
ENST00000341012.11:c.1786T>C	ENSP00000343034.7:p.Phe596Leu
ENST00000372220.4:c.811T>C	ENSP00000361294.4:p.Phe271Leu
ENST00000372228.7:c.2014T>C	ENSP00000361302.3:p.Phe672Leu
ENST00000402686.7:c.1948T>C	ENSP00000385797.3:p.Phe650Leu
ENST00000404875.6:c.1597T>C	ENSP00000384531.2:p.Phe533Leu
ENST00000423007.5:c.1948T>C	ENSP00000404119.1:p.Phe650Leu
ENST00000485278.5:n.2498T>C
ENST00000494883.1:n.491T>C
NM_001077365.1:c.1948T>C	NP_001070833.1:p.Phe650Leu
NM_001077366.1:c.1786T>C	NP_001070834.1:p.Phe596Leu
NM_001136113.1:c.1948T>C	NP_001129585.1:p.Phe650Leu
NM_001136114.1:c.1597T>C	NP_001129586.1:p.Phe533Leu
NM_007171.3:c.2014T>C	NP_009102.3:p.Phe672Leu
XM_005272156.1:c.2014T>C	XP_005272213.1:p.Phe672Leu
XM_005272158.1:c.1852T>C	XP_005272215.1:p.Phe618Leu
XM_005272159.1:c.1663T>C	XP_005272216.1:p.Phe555Leu
XM_005272162.1:c.817T>C	XP_005272219.1:p.Phe273Leu
XM_006716932.1:c.1663T>C	XP_006716995.1:p.Phe555Leu
XM_011518140.1:c.1867T>C	XP_011516442.1:p.Phe623Leu
XM_011518141.1:c.1801T>C	XP_011516443.1:p.Phe601Leu
XM_011518142.1:c.1705T>C	XP_011516444.1:p.Phe569Leu
XM_011518143.1:c.1699T>C	XP_011516445.1:p.Phe567Leu
XM_011518145.1:c.1558T>C	XP_011516447.1:p.Phe520Leu
XM_011518147.1:c.886T>C	XP_011516449.1:p.Phe296Leu
XR_929703.1:n.2190T>C
NM_001353193.1:c.2014T>C	NP_001340122.1:p.Phe672Leu
NM_001353194.1:c.1786T>C	NP_001340123.1:p.Phe596Leu
NM_001353195.1:c.1597T>C	NP_001340124.1:p.Phe533Leu
NM_001353196.1:c.1858T>C	NP_001340125.1:p.Phe620Leu
NM_001353197.1:c.1852T>C	NP_001340126.1:p.Phe618Leu
NM_001353198.1:c.1852T>C	NP_001340127.1:p.Phe618Leu
NM_001353199.1:c.1663T>C	NP_001340128.1:p.Phe555Leu
NM_001353200.1:c.1492T>C	NP_001340129.1:p.Phe498Leu
NR_148391.1:n.1998T>C
NR_148392.1:n.2216T>C
NR_148393.1:n.2137T>C
NR_148394.1:n.1891T>C
NR_148395.1:n.2289T>C
NR_148396.1:n.1923T>C
NR_148397.1:n.2048T>C
NR_148398.1:n.2003T>C
NR_148399.1:n.2529T>C
NR_148400.1:n.2128T>C
XM_005272162.3:c.817T>C	XP_005272219.1:p.Phe273Leu
XM_006716932.2:c.1663T>C	XP_006716995.1:p.Phe555Leu
XM_011518140.2:c.1867T>C	XP_011516442.1:p.Phe623Leu
XM_011518141.2:c.1801T>C	XP_011516443.1:p.Phe601Leu
XM_011518142.2:c.1705T>C	XP_011516444.1:p.Phe569Leu
XM_011518143.2:c.1699T>C	XP_011516445.1:p.Phe567Leu
XM_011518145.2:c.1558T>C	XP_011516447.1:p.Phe520Leu
XM_017014205.2:c.817T>C	XP_016869694.1:p.Phe273Leu
XM_024447380.1:c.817T>C	XP_024303148.1:p.Phe273Leu
XM_024447381.1:c.1123T>C	XP_024303149.1:p.Phe375Leu
XM_024447382.1:c.817T>C	XP_024303150.1:p.Phe273Leu
XR_001746160.2:n.2118T>C
XR_001746162.2:n.2323T>C
XR_001746164.1:n.2040T>C
XR_001746166.2:n.2335T>C
NM_001077365.2:c.1948T>C MANE Select	NP_001070833.1:p.Phe650Leu
NM_001077366.2:c.1786T>C	NP_001070834.1:p.Phe596Leu
NM_001136113.2:c.1948T>C	NP_001129585.1:p.Phe650Leu
NM_001136114.2:c.1597T>C	NP_001129586.1:p.Phe533Leu
NM_001353193.2:c.2014T>C	NP_001340122.2:p.Phe672Leu
NM_001353194.2:c.1786T>C	NP_001340123.1:p.Phe596Leu
NM_001353195.2:c.1597T>C	NP_001340124.1:p.Phe533Leu
NM_001353196.2:c.1858T>C	NP_001340125.1:p.Phe620Leu
NM_001353197.2:c.1852T>C	NP_001340126.2:p.Phe618Leu
NM_001353198.2:c.1852T>C	NP_001340127.2:p.Phe618Leu
NM_001353199.2:c.1663T>C	NP_001340128.2:p.Phe555Leu
NM_001353200.2:c.1492T>C	NP_001340129.1:p.Phe498Leu
NM_001374689.1:c.1936T>C	NP_001361618.1:p.Phe646Leu
NM_001374690.1:c.1729T>C	NP_001361619.1:p.Phe577Leu
NM_001374691.1:c.1597T>C	NP_001361620.1:p.Phe533Leu
NM_001374692.1:c.1597T>C	NP_001361621.1:p.Phe533Leu
NM_001374693.1:c.1597T>C	NP_001361622.1:p.Phe533Leu
NM_001374695.1:c.1558T>C	NP_001361624.1:p.Phe520Leu
NM_007171.4:c.2014T>C	NP_009102.4:p.Phe672Leu
NR_148391.2:n.1982T>C
NR_148392.2:n.2200T>C
NR_148393.2:n.2121T>C
NR_148394.2:n.1875T>C
NR_148395.2:n.2273T>C
NR_148396.2:n.1907T>C
NR_148397.2:n.2032T>C
NR_148398.2:n.1987T>C
NR_148399.2:n.2513T>C
NR_148400.2:n.2112T>C

Linked Data

Genomic Alleles

Transcript Alleles