Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522170T>C , CM000671.2:g.131522170T>C	GRCh38
NC_000009.11:g.134397557T>C , CM000671.1:g.134397557T>C	GRCh37
NC_000009.10:g.133387378T>C	NCBI36
NG_008896.1:g.24269T>C
NG_008896.2:g.24269T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1787T>C	ENSP00000343034.7:p.Phe596Ser
ENST00000404875.7:n.2489T>C
ENST00000423007.6:c.2006T>C	ENSP00000404119.2:p.Phe669Ser
ENST00000677295.2:c.*2293T>C	ENSP00000504346.2:n.*2293T>C
ENST00000678264.2:c.*2132T>C	ENSP00000503157.2:n.*2132T>C
ENST00000682070.1:n.2291-32T>C
ENST00000682813.1:n.2353T>C
ENST00000683392.1:n.4573-32T>C
ENST00000683712.1:n.2354T>C
ENST00000683900.1:n.3849T>C
ENST00000684062.1:n.2615T>C
ENST00000684579.1:n.3795T>C
ENST00000684679.1:n.1176T>C
ENST00000341012.12:c.1787T>C	ENSP00000343034.7:p.Phe596Ser
ENST00000372220.5:c.818T>C	ENSP00000361294.5:p.Phe273Ser
ENST00000372228.9:c.2015T>C	ENSP00000361302.3:p.Phe672Ser
ENST00000402686.8:c.1949T>C MANE Select	ENSP00000385797.4:p.Phe650Ser
ENST00000676640.1:c.1949T>C	ENSP00000503281.1:p.Phe650Ser
ENST00000676803.1:c.1010T>C	ENSP00000503093.1:p.Phe337Ser
ENST00000676835.1:c.*1164T>C	ENSP00000502911.1:n.*1164T>C
ENST00000677029.1:c.1493T>C	ENSP00000502936.1:p.Phe498Ser
ENST00000677099.1:c.*1659T>C	ENSP00000504553.1:n.*1659T>C
ENST00000677216.1:c.1598T>C	ENSP00000503772.1:p.Phe533Ser
ENST00000677221.1:n.974T>C
ENST00000677295.1:c.*1203-32T>C	ENSP00000504346.1:n.*1203-32T>C
ENST00000677444.1:c.1894T>C
ENST00000677586.1:n.1316T>C
ENST00000677626.1:c.1598T>C	ENSP00000503552.1:p.Phe533Ser
ENST00000677853.1:c.*957T>C	ENSP00000503488.1:n.*957T>C
ENST00000678202.1:n.1108T>C
ENST00000678264.1:c.*1326T>C	ENSP00000503157.1:n.*1326T>C
ENST00000678303.1:c.1859T>C	ENSP00000503696.1:p.Phe620Ser
ENST00000678366.1:c.*2198T>C	ENSP00000504353.1:n.*2198T>C
ENST00000678546.1:c.*1894T>C	ENSP00000503062.1:n.*1894T>C
ENST00000678548.1:c.*2088T>C	ENSP00000503934.1:n.*2088T>C
ENST00000678626.1:n.1785T>C
ENST00000678739.1:c.*2147-32T>C	ENSP00000503806.1:n.*2147-32T>C
ENST00000678833.1:c.*1701T>C	ENSP00000503893.1:n.*1701T>C
ENST00000679023.1:c.1787T>C	ENSP00000503718.1:p.Phe596Ser
ENST00000679076.1:c.1568T>C
ENST00000679111.1:c.*705T>C	ENSP00000504257.1:n.*705T>C
ENST00000679189.1:c.1598T>C	ENSP00000503356.1:p.Phe533Ser
ENST00000341012.11:c.1787T>C	ENSP00000343034.7:p.Phe596Ser
ENST00000372220.4:c.812T>C	ENSP00000361294.4:p.Phe271Ser
ENST00000372228.7:c.2015T>C	ENSP00000361302.3:p.Phe672Ser
ENST00000402686.7:c.1949T>C	ENSP00000385797.3:p.Phe650Ser
ENST00000404875.6:c.1598T>C	ENSP00000384531.2:p.Phe533Ser
ENST00000423007.5:c.1949T>C	ENSP00000404119.1:p.Phe650Ser
ENST00000485278.5:n.2499T>C
ENST00000494883.1:n.492T>C
NM_001077365.1:c.1949T>C	NP_001070833.1:p.Phe650Ser
NM_001077366.1:c.1787T>C	NP_001070834.1:p.Phe596Ser
NM_001136113.1:c.1949T>C	NP_001129585.1:p.Phe650Ser
NM_001136114.1:c.1598T>C	NP_001129586.1:p.Phe533Ser
NM_007171.3:c.2015T>C	NP_009102.3:p.Phe672Ser
XM_005272156.1:c.2015T>C	XP_005272213.1:p.Phe672Ser
XM_005272158.1:c.1853T>C	XP_005272215.1:p.Phe618Ser
XM_005272159.1:c.1664T>C	XP_005272216.1:p.Phe555Ser
XM_005272162.1:c.818T>C	XP_005272219.1:p.Phe273Ser
XM_006716932.1:c.1664T>C	XP_006716995.1:p.Phe555Ser
XM_011518140.1:c.1868T>C	XP_011516442.1:p.Phe623Ser
XM_011518141.1:c.1802T>C	XP_011516443.1:p.Phe601Ser
XM_011518142.1:c.1706T>C	XP_011516444.1:p.Phe569Ser
XM_011518143.1:c.1700T>C	XP_011516445.1:p.Phe567Ser
XM_011518145.1:c.1559T>C	XP_011516447.1:p.Phe520Ser
XM_011518147.1:c.887T>C	XP_011516449.1:p.Phe296Ser
XR_929703.1:n.2191T>C
NM_001353193.1:c.2015T>C	NP_001340122.1:p.Phe672Ser
NM_001353194.1:c.1787T>C	NP_001340123.1:p.Phe596Ser
NM_001353195.1:c.1598T>C	NP_001340124.1:p.Phe533Ser
NM_001353196.1:c.1859T>C	NP_001340125.1:p.Phe620Ser
NM_001353197.1:c.1853T>C	NP_001340126.1:p.Phe618Ser
NM_001353198.1:c.1853T>C	NP_001340127.1:p.Phe618Ser
NM_001353199.1:c.1664T>C	NP_001340128.1:p.Phe555Ser
NM_001353200.1:c.1493T>C	NP_001340129.1:p.Phe498Ser
NR_148391.1:n.1999T>C
NR_148392.1:n.2217T>C
NR_148393.1:n.2138T>C
NR_148394.1:n.1892T>C
NR_148395.1:n.2290T>C
NR_148396.1:n.1924T>C
NR_148397.1:n.2049T>C
NR_148398.1:n.2004T>C
NR_148399.1:n.2530T>C
NR_148400.1:n.2129T>C
XM_005272162.3:c.818T>C	XP_005272219.1:p.Phe273Ser
XM_006716932.2:c.1664T>C	XP_006716995.1:p.Phe555Ser
XM_011518140.2:c.1868T>C	XP_011516442.1:p.Phe623Ser
XM_011518141.2:c.1802T>C	XP_011516443.1:p.Phe601Ser
XM_011518142.2:c.1706T>C	XP_011516444.1:p.Phe569Ser
XM_011518143.2:c.1700T>C	XP_011516445.1:p.Phe567Ser
XM_011518145.2:c.1559T>C	XP_011516447.1:p.Phe520Ser
XM_017014205.2:c.818T>C	XP_016869694.1:p.Phe273Ser
XM_024447380.1:c.818T>C	XP_024303148.1:p.Phe273Ser
XM_024447381.1:c.1124T>C	XP_024303149.1:p.Phe375Ser
XM_024447382.1:c.818T>C	XP_024303150.1:p.Phe273Ser
XR_001746160.2:n.2119T>C
XR_001746162.2:n.2324T>C
XR_001746164.1:n.2041T>C
XR_001746166.2:n.2336T>C
NM_001077365.2:c.1949T>C MANE Select	NP_001070833.1:p.Phe650Ser
NM_001077366.2:c.1787T>C	NP_001070834.1:p.Phe596Ser
NM_001136113.2:c.1949T>C	NP_001129585.1:p.Phe650Ser
NM_001136114.2:c.1598T>C	NP_001129586.1:p.Phe533Ser
NM_001353193.2:c.2015T>C	NP_001340122.2:p.Phe672Ser
NM_001353194.2:c.1787T>C	NP_001340123.1:p.Phe596Ser
NM_001353195.2:c.1598T>C	NP_001340124.1:p.Phe533Ser
NM_001353196.2:c.1859T>C	NP_001340125.1:p.Phe620Ser
NM_001353197.2:c.1853T>C	NP_001340126.2:p.Phe618Ser
NM_001353198.2:c.1853T>C	NP_001340127.2:p.Phe618Ser
NM_001353199.2:c.1664T>C	NP_001340128.2:p.Phe555Ser
NM_001353200.2:c.1493T>C	NP_001340129.1:p.Phe498Ser
NM_001374689.1:c.1937T>C	NP_001361618.1:p.Phe646Ser
NM_001374690.1:c.1730T>C	NP_001361619.1:p.Phe577Ser
NM_001374691.1:c.1598T>C	NP_001361620.1:p.Phe533Ser
NM_001374692.1:c.1598T>C	NP_001361621.1:p.Phe533Ser
NM_001374693.1:c.1598T>C	NP_001361622.1:p.Phe533Ser
NM_001374695.1:c.1559T>C	NP_001361624.1:p.Phe520Ser
NM_007171.4:c.2015T>C	NP_009102.4:p.Phe672Ser
NR_148391.2:n.1983T>C
NR_148392.2:n.2201T>C
NR_148393.2:n.2122T>C
NR_148394.2:n.1876T>C
NR_148395.2:n.2274T>C
NR_148396.2:n.1908T>C
NR_148397.2:n.2033T>C
NR_148398.2:n.1988T>C
NR_148399.2:n.2514T>C
NR_148400.2:n.2113T>C

Linked Data

Genomic Alleles

Transcript Alleles