Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522116T>C , CM000671.2:g.131522116T>C	GRCh38
NC_000009.11:g.134397503T>C , CM000671.1:g.134397503T>C	GRCh37
NC_000009.10:g.133387324T>C	NCBI36
NG_008896.1:g.24215T>C
NG_008896.2:g.24215T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1733T>C	ENSP00000343034.7:p.Phe578Ser
ENST00000404875.7:n.2435T>C
ENST00000423007.6:c.1952T>C	ENSP00000404119.2:p.Phe651Ser
ENST00000677295.2:c.*2239T>C	ENSP00000504346.2:n.*2239T>C
ENST00000678264.2:c.*2078T>C	ENSP00000503157.2:n.*2078T>C
ENST00000682070.1:n.2291-86T>C
ENST00000682813.1:n.2299T>C
ENST00000683392.1:n.4573-86T>C
ENST00000683712.1:n.2300T>C
ENST00000683900.1:n.3795T>C
ENST00000684062.1:n.2561T>C
ENST00000684579.1:n.3741T>C
ENST00000684679.1:n.1122T>C
ENST00000341012.12:c.1733T>C	ENSP00000343034.7:p.Phe578Ser
ENST00000372220.5:c.764T>C	ENSP00000361294.5:p.Phe255Ser
ENST00000372228.9:c.1961T>C	ENSP00000361302.3:p.Phe654Ser
ENST00000402686.8:c.1895T>C MANE Select	ENSP00000385797.4:p.Phe632Ser
ENST00000676640.1:c.1895T>C	ENSP00000503281.1:p.Phe632Ser
ENST00000676803.1:c.956T>C	ENSP00000503093.1:p.Phe319Ser
ENST00000676835.1:c.*1110T>C	ENSP00000502911.1:n.*1110T>C
ENST00000677029.1:c.1439T>C	ENSP00000502936.1:p.Phe480Ser
ENST00000677099.1:c.*1605T>C	ENSP00000504553.1:n.*1605T>C
ENST00000677216.1:c.1544T>C	ENSP00000503772.1:p.Phe515Ser
ENST00000677221.1:n.920T>C
ENST00000677295.1:c.*1203-86T>C	ENSP00000504346.1:n.*1203-86T>C
ENST00000677444.1:c.1840T>C
ENST00000677586.1:n.1262T>C
ENST00000677626.1:c.1544T>C	ENSP00000503552.1:p.Phe515Ser
ENST00000677853.1:c.*903T>C	ENSP00000503488.1:n.*903T>C
ENST00000678202.1:n.1054T>C
ENST00000678264.1:c.*1272T>C	ENSP00000503157.1:n.*1272T>C
ENST00000678303.1:c.1805T>C	ENSP00000503696.1:p.Phe602Ser
ENST00000678366.1:c.*2144T>C	ENSP00000504353.1:n.*2144T>C
ENST00000678546.1:c.*1840T>C	ENSP00000503062.1:n.*1840T>C
ENST00000678548.1:c.*2034T>C	ENSP00000503934.1:n.*2034T>C
ENST00000678626.1:n.1731T>C
ENST00000678739.1:c.*2147-86T>C	ENSP00000503806.1:n.*2147-86T>C
ENST00000678833.1:c.*1647T>C	ENSP00000503893.1:n.*1647T>C
ENST00000679023.1:c.1733T>C	ENSP00000503718.1:p.Phe578Ser
ENST00000679076.1:c.1514T>C
ENST00000679111.1:c.*651T>C	ENSP00000504257.1:n.*651T>C
ENST00000679189.1:c.1544T>C	ENSP00000503356.1:p.Phe515Ser
ENST00000341012.11:c.1733T>C	ENSP00000343034.7:p.Phe578Ser
ENST00000372220.4:c.758T>C	ENSP00000361294.4:p.Phe253Ser
ENST00000372228.7:c.1961T>C	ENSP00000361302.3:p.Phe654Ser
ENST00000402686.7:c.1895T>C	ENSP00000385797.3:p.Phe632Ser
ENST00000404875.6:c.1544T>C	ENSP00000384531.2:p.Phe515Ser
ENST00000423007.5:c.1895T>C	ENSP00000404119.1:p.Phe632Ser
ENST00000485278.5:n.2445T>C
ENST00000494883.1:n.438T>C
NM_001077365.1:c.1895T>C	NP_001070833.1:p.Phe632Ser
NM_001077366.1:c.1733T>C	NP_001070834.1:p.Phe578Ser
NM_001136113.1:c.1895T>C	NP_001129585.1:p.Phe632Ser
NM_001136114.1:c.1544T>C	NP_001129586.1:p.Phe515Ser
NM_007171.3:c.1961T>C	NP_009102.3:p.Phe654Ser
XM_005272156.1:c.1961T>C	XP_005272213.1:p.Phe654Ser
XM_005272158.1:c.1799T>C	XP_005272215.1:p.Phe600Ser
XM_005272159.1:c.1610T>C	XP_005272216.1:p.Phe537Ser
XM_005272162.1:c.764T>C	XP_005272219.1:p.Phe255Ser
XM_006716932.1:c.1610T>C	XP_006716995.1:p.Phe537Ser
XM_011518140.1:c.1814T>C	XP_011516442.1:p.Phe605Ser
XM_011518141.1:c.1748T>C	XP_011516443.1:p.Phe583Ser
XM_011518142.1:c.1652T>C	XP_011516444.1:p.Phe551Ser
XM_011518143.1:c.1646T>C	XP_011516445.1:p.Phe549Ser
XM_011518145.1:c.1505T>C	XP_011516447.1:p.Phe502Ser
XM_011518147.1:c.833T>C	XP_011516449.1:p.Phe278Ser
XR_929703.1:n.2137T>C
NM_001353193.1:c.1961T>C	NP_001340122.1:p.Phe654Ser
NM_001353194.1:c.1733T>C	NP_001340123.1:p.Phe578Ser
NM_001353195.1:c.1544T>C	NP_001340124.1:p.Phe515Ser
NM_001353196.1:c.1805T>C	NP_001340125.1:p.Phe602Ser
NM_001353197.1:c.1799T>C	NP_001340126.1:p.Phe600Ser
NM_001353198.1:c.1799T>C	NP_001340127.1:p.Phe600Ser
NM_001353199.1:c.1610T>C	NP_001340128.1:p.Phe537Ser
NM_001353200.1:c.1439T>C	NP_001340129.1:p.Phe480Ser
NR_148391.1:n.1945T>C
NR_148392.1:n.2163T>C
NR_148393.1:n.2084T>C
NR_148394.1:n.1838T>C
NR_148395.1:n.2236T>C
NR_148396.1:n.1870T>C
NR_148397.1:n.1995T>C
NR_148398.1:n.1950T>C
NR_148399.1:n.2476T>C
NR_148400.1:n.2075T>C
XM_005272162.3:c.764T>C	XP_005272219.1:p.Phe255Ser
XM_006716932.2:c.1610T>C	XP_006716995.1:p.Phe537Ser
XM_011518140.2:c.1814T>C	XP_011516442.1:p.Phe605Ser
XM_011518141.2:c.1748T>C	XP_011516443.1:p.Phe583Ser
XM_011518142.2:c.1652T>C	XP_011516444.1:p.Phe551Ser
XM_011518143.2:c.1646T>C	XP_011516445.1:p.Phe549Ser
XM_011518145.2:c.1505T>C	XP_011516447.1:p.Phe502Ser
XM_017014205.2:c.764T>C	XP_016869694.1:p.Phe255Ser
XM_024447380.1:c.764T>C	XP_024303148.1:p.Phe255Ser
XM_024447381.1:c.1070T>C	XP_024303149.1:p.Phe357Ser
XM_024447382.1:c.764T>C	XP_024303150.1:p.Phe255Ser
XR_001746160.2:n.2065T>C
XR_001746162.2:n.2270T>C
XR_001746164.1:n.1987T>C
XR_001746166.2:n.2282T>C
NM_001077365.2:c.1895T>C MANE Select	NP_001070833.1:p.Phe632Ser
NM_001077366.2:c.1733T>C	NP_001070834.1:p.Phe578Ser
NM_001136113.2:c.1895T>C	NP_001129585.1:p.Phe632Ser
NM_001136114.2:c.1544T>C	NP_001129586.1:p.Phe515Ser
NM_001353193.2:c.1961T>C	NP_001340122.2:p.Phe654Ser
NM_001353194.2:c.1733T>C	NP_001340123.1:p.Phe578Ser
NM_001353195.2:c.1544T>C	NP_001340124.1:p.Phe515Ser
NM_001353196.2:c.1805T>C	NP_001340125.1:p.Phe602Ser
NM_001353197.2:c.1799T>C	NP_001340126.2:p.Phe600Ser
NM_001353198.2:c.1799T>C	NP_001340127.2:p.Phe600Ser
NM_001353199.2:c.1610T>C	NP_001340128.2:p.Phe537Ser
NM_001353200.2:c.1439T>C	NP_001340129.1:p.Phe480Ser
NM_001374689.1:c.1883T>C	NP_001361618.1:p.Phe628Ser
NM_001374690.1:c.1676T>C	NP_001361619.1:p.Phe559Ser
NM_001374691.1:c.1544T>C	NP_001361620.1:p.Phe515Ser
NM_001374692.1:c.1544T>C	NP_001361621.1:p.Phe515Ser
NM_001374693.1:c.1544T>C	NP_001361622.1:p.Phe515Ser
NM_001374695.1:c.1505T>C	NP_001361624.1:p.Phe502Ser
NM_007171.4:c.1961T>C	NP_009102.4:p.Phe654Ser
NR_148391.2:n.1929T>C
NR_148392.2:n.2147T>C
NR_148393.2:n.2068T>C
NR_148394.2:n.1822T>C
NR_148395.2:n.2220T>C
NR_148396.2:n.1854T>C
NR_148397.2:n.1979T>C
NR_148398.2:n.1934T>C
NR_148399.2:n.2460T>C
NR_148400.2:n.2059T>C

Linked Data

Genomic Alleles

Transcript Alleles