Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522119T>C , CM000671.2:g.131522119T>C	GRCh38
NC_000009.11:g.134397506T>C , CM000671.1:g.134397506T>C	GRCh37
NC_000009.10:g.133387327T>C	NCBI36
NG_008896.1:g.24218T>C
NG_008896.2:g.24218T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1736T>C	ENSP00000343034.7:p.Phe579Ser
ENST00000404875.7:n.2438T>C
ENST00000423007.6:c.1955T>C	ENSP00000404119.2:p.Phe652Ser
ENST00000677295.2:c.*2242T>C	ENSP00000504346.2:n.*2242T>C
ENST00000678264.2:c.*2081T>C	ENSP00000503157.2:n.*2081T>C
ENST00000682070.1:n.2291-83T>C
ENST00000682813.1:n.2302T>C
ENST00000683392.1:n.4573-83T>C
ENST00000683712.1:n.2303T>C
ENST00000683900.1:n.3798T>C
ENST00000684062.1:n.2564T>C
ENST00000684579.1:n.3744T>C
ENST00000684679.1:n.1125T>C
ENST00000341012.12:c.1736T>C	ENSP00000343034.7:p.Phe579Ser
ENST00000372220.5:c.767T>C	ENSP00000361294.5:p.Phe256Ser
ENST00000372228.9:c.1964T>C	ENSP00000361302.3:p.Phe655Ser
ENST00000402686.8:c.1898T>C MANE Select	ENSP00000385797.4:p.Phe633Ser
ENST00000676640.1:c.1898T>C	ENSP00000503281.1:p.Phe633Ser
ENST00000676803.1:c.959T>C	ENSP00000503093.1:p.Phe320Ser
ENST00000676835.1:c.*1113T>C	ENSP00000502911.1:n.*1113T>C
ENST00000677029.1:c.1442T>C	ENSP00000502936.1:p.Phe481Ser
ENST00000677099.1:c.*1608T>C	ENSP00000504553.1:n.*1608T>C
ENST00000677216.1:c.1547T>C	ENSP00000503772.1:p.Phe516Ser
ENST00000677221.1:n.923T>C
ENST00000677295.1:c.*1203-83T>C	ENSP00000504346.1:n.*1203-83T>C
ENST00000677444.1:c.1843T>C
ENST00000677586.1:n.1265T>C
ENST00000677626.1:c.1547T>C	ENSP00000503552.1:p.Phe516Ser
ENST00000677853.1:c.*906T>C	ENSP00000503488.1:n.*906T>C
ENST00000678202.1:n.1057T>C
ENST00000678264.1:c.*1275T>C	ENSP00000503157.1:n.*1275T>C
ENST00000678303.1:c.1808T>C	ENSP00000503696.1:p.Phe603Ser
ENST00000678366.1:c.*2147T>C	ENSP00000504353.1:n.*2147T>C
ENST00000678546.1:c.*1843T>C	ENSP00000503062.1:n.*1843T>C
ENST00000678548.1:c.*2037T>C	ENSP00000503934.1:n.*2037T>C
ENST00000678626.1:n.1734T>C
ENST00000678739.1:c.*2147-83T>C	ENSP00000503806.1:n.*2147-83T>C
ENST00000678833.1:c.*1650T>C	ENSP00000503893.1:n.*1650T>C
ENST00000679023.1:c.1736T>C	ENSP00000503718.1:p.Phe579Ser
ENST00000679076.1:c.1517T>C
ENST00000679111.1:c.*654T>C	ENSP00000504257.1:n.*654T>C
ENST00000679189.1:c.1547T>C	ENSP00000503356.1:p.Phe516Ser
ENST00000341012.11:c.1736T>C	ENSP00000343034.7:p.Phe579Ser
ENST00000372220.4:c.761T>C	ENSP00000361294.4:p.Phe254Ser
ENST00000372228.7:c.1964T>C	ENSP00000361302.3:p.Phe655Ser
ENST00000402686.7:c.1898T>C	ENSP00000385797.3:p.Phe633Ser
ENST00000404875.6:c.1547T>C	ENSP00000384531.2:p.Phe516Ser
ENST00000423007.5:c.1898T>C	ENSP00000404119.1:p.Phe633Ser
ENST00000485278.5:n.2448T>C
ENST00000494883.1:n.441T>C
NM_001077365.1:c.1898T>C	NP_001070833.1:p.Phe633Ser
NM_001077366.1:c.1736T>C	NP_001070834.1:p.Phe579Ser
NM_001136113.1:c.1898T>C	NP_001129585.1:p.Phe633Ser
NM_001136114.1:c.1547T>C	NP_001129586.1:p.Phe516Ser
NM_007171.3:c.1964T>C	NP_009102.3:p.Phe655Ser
XM_005272156.1:c.1964T>C	XP_005272213.1:p.Phe655Ser
XM_005272158.1:c.1802T>C	XP_005272215.1:p.Phe601Ser
XM_005272159.1:c.1613T>C	XP_005272216.1:p.Phe538Ser
XM_005272162.1:c.767T>C	XP_005272219.1:p.Phe256Ser
XM_006716932.1:c.1613T>C	XP_006716995.1:p.Phe538Ser
XM_011518140.1:c.1817T>C	XP_011516442.1:p.Phe606Ser
XM_011518141.1:c.1751T>C	XP_011516443.1:p.Phe584Ser
XM_011518142.1:c.1655T>C	XP_011516444.1:p.Phe552Ser
XM_011518143.1:c.1649T>C	XP_011516445.1:p.Phe550Ser
XM_011518145.1:c.1508T>C	XP_011516447.1:p.Phe503Ser
XM_011518147.1:c.836T>C	XP_011516449.1:p.Phe279Ser
XR_929703.1:n.2140T>C
NM_001353193.1:c.1964T>C	NP_001340122.1:p.Phe655Ser
NM_001353194.1:c.1736T>C	NP_001340123.1:p.Phe579Ser
NM_001353195.1:c.1547T>C	NP_001340124.1:p.Phe516Ser
NM_001353196.1:c.1808T>C	NP_001340125.1:p.Phe603Ser
NM_001353197.1:c.1802T>C	NP_001340126.1:p.Phe601Ser
NM_001353198.1:c.1802T>C	NP_001340127.1:p.Phe601Ser
NM_001353199.1:c.1613T>C	NP_001340128.1:p.Phe538Ser
NM_001353200.1:c.1442T>C	NP_001340129.1:p.Phe481Ser
NR_148391.1:n.1948T>C
NR_148392.1:n.2166T>C
NR_148393.1:n.2087T>C
NR_148394.1:n.1841T>C
NR_148395.1:n.2239T>C
NR_148396.1:n.1873T>C
NR_148397.1:n.1998T>C
NR_148398.1:n.1953T>C
NR_148399.1:n.2479T>C
NR_148400.1:n.2078T>C
XM_005272162.3:c.767T>C	XP_005272219.1:p.Phe256Ser
XM_006716932.2:c.1613T>C	XP_006716995.1:p.Phe538Ser
XM_011518140.2:c.1817T>C	XP_011516442.1:p.Phe606Ser
XM_011518141.2:c.1751T>C	XP_011516443.1:p.Phe584Ser
XM_011518142.2:c.1655T>C	XP_011516444.1:p.Phe552Ser
XM_011518143.2:c.1649T>C	XP_011516445.1:p.Phe550Ser
XM_011518145.2:c.1508T>C	XP_011516447.1:p.Phe503Ser
XM_017014205.2:c.767T>C	XP_016869694.1:p.Phe256Ser
XM_024447380.1:c.767T>C	XP_024303148.1:p.Phe256Ser
XM_024447381.1:c.1073T>C	XP_024303149.1:p.Phe358Ser
XM_024447382.1:c.767T>C	XP_024303150.1:p.Phe256Ser
XR_001746160.2:n.2068T>C
XR_001746162.2:n.2273T>C
XR_001746164.1:n.1990T>C
XR_001746166.2:n.2285T>C
NM_001077365.2:c.1898T>C MANE Select	NP_001070833.1:p.Phe633Ser
NM_001077366.2:c.1736T>C	NP_001070834.1:p.Phe579Ser
NM_001136113.2:c.1898T>C	NP_001129585.1:p.Phe633Ser
NM_001136114.2:c.1547T>C	NP_001129586.1:p.Phe516Ser
NM_001353193.2:c.1964T>C	NP_001340122.2:p.Phe655Ser
NM_001353194.2:c.1736T>C	NP_001340123.1:p.Phe579Ser
NM_001353195.2:c.1547T>C	NP_001340124.1:p.Phe516Ser
NM_001353196.2:c.1808T>C	NP_001340125.1:p.Phe603Ser
NM_001353197.2:c.1802T>C	NP_001340126.2:p.Phe601Ser
NM_001353198.2:c.1802T>C	NP_001340127.2:p.Phe601Ser
NM_001353199.2:c.1613T>C	NP_001340128.2:p.Phe538Ser
NM_001353200.2:c.1442T>C	NP_001340129.1:p.Phe481Ser
NM_001374689.1:c.1886T>C	NP_001361618.1:p.Phe629Ser
NM_001374690.1:c.1679T>C	NP_001361619.1:p.Phe560Ser
NM_001374691.1:c.1547T>C	NP_001361620.1:p.Phe516Ser
NM_001374692.1:c.1547T>C	NP_001361621.1:p.Phe516Ser
NM_001374693.1:c.1547T>C	NP_001361622.1:p.Phe516Ser
NM_001374695.1:c.1508T>C	NP_001361624.1:p.Phe503Ser
NM_007171.4:c.1964T>C	NP_009102.4:p.Phe655Ser
NR_148391.2:n.1932T>C
NR_148392.2:n.2150T>C
NR_148393.2:n.2071T>C
NR_148394.2:n.1825T>C
NR_148395.2:n.2223T>C
NR_148396.2:n.1857T>C
NR_148397.2:n.1982T>C
NR_148398.2:n.1937T>C
NR_148399.2:n.2463T>C
NR_148400.2:n.2062T>C

Linked Data

Genomic Alleles

Transcript Alleles