Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522954T>C , CM000671.2:g.131522954T>C	GRCh38
NC_000009.11:g.134398341T>C , CM000671.1:g.134398341T>C	GRCh37
NC_000009.10:g.133388162T>C	NCBI36
NG_008896.1:g.25053T>C
NG_008896.2:g.25053T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1864T>C	ENSP00000343034.7:p.Phe622Leu
ENST00000404875.7:n.2566T>C
ENST00000423007.6:c.2083T>C	ENSP00000404119.2:p.Phe695Leu
ENST00000677295.2:c.*2370T>C	ENSP00000504346.2:n.*2370T>C
ENST00000678264.2:c.*2209T>C	ENSP00000503157.2:n.*2209T>C
ENST00000682070.1:n.2336T>C
ENST00000682639.1:c.23T>C
ENST00000682813.1:n.2423T>C
ENST00000683231.1:c.23T>C
ENST00000683392.1:n.4618T>C
ENST00000683712.1:n.2431T>C
ENST00000683900.1:n.3926T>C
ENST00000684062.1:n.2692T>C
ENST00000684399.1:c.23T>C
ENST00000684579.1:n.3872T>C
ENST00000341012.12:c.1864T>C	ENSP00000343034.7:p.Phe622Leu
ENST00000372220.5:c.895T>C	ENSP00000361294.5:p.Phe299Leu
ENST00000372228.9:c.2092T>C	ENSP00000361302.3:p.Phe698Leu
ENST00000402686.8:c.2026T>C MANE Select	ENSP00000385797.4:p.Phe676Leu
ENST00000676640.1:c.2026T>C	ENSP00000503281.1:p.Phe676Leu
ENST00000676803.1:c.1087T>C	ENSP00000503093.1:p.Phe363Leu
ENST00000676835.1:c.*1241T>C	ENSP00000502911.1:n.*1241T>C
ENST00000677029.1:c.1570T>C	ENSP00000502936.1:p.Phe524Leu
ENST00000677099.1:c.*1736T>C	ENSP00000504553.1:n.*1736T>C
ENST00000677216.1:c.1675T>C	ENSP00000503772.1:p.Phe559Leu
ENST00000677221.1:n.1051T>C
ENST00000677295.1:c.*1248T>C	ENSP00000504346.1:n.*1248T>C
ENST00000677444.1:c.1971T>C
ENST00000677586.1:n.1393T>C
ENST00000677626.1:c.1675T>C	ENSP00000503552.1:p.Phe559Leu
ENST00000677853.1:c.*1034T>C	ENSP00000503488.1:n.*1034T>C
ENST00000678264.1:c.*1403T>C	ENSP00000503157.1:n.*1403T>C
ENST00000678303.1:c.1936T>C	ENSP00000503696.1:p.Phe646Leu
ENST00000678366.1:c.*2275T>C	ENSP00000504353.1:n.*2275T>C
ENST00000678546.1:c.*1971T>C	ENSP00000503062.1:n.*1971T>C
ENST00000678548.1:c.*2165T>C	ENSP00000503934.1:n.*2165T>C
ENST00000678626.1:n.1862T>C
ENST00000678739.1:c.*2192T>C	ENSP00000503806.1:n.*2192T>C
ENST00000678833.1:c.*1778T>C	ENSP00000503893.1:n.*1778T>C
ENST00000679023.1:c.1864T>C	ENSP00000503718.1:p.Phe622Leu
ENST00000679076.1:c.1645T>C
ENST00000679111.1:c.*782T>C	ENSP00000504257.1:n.*782T>C
ENST00000679189.1:c.1675T>C	ENSP00000503356.1:p.Phe559Leu
ENST00000341012.11:c.1864T>C	ENSP00000343034.7:p.Phe622Leu
ENST00000372220.4:c.889T>C	ENSP00000361294.4:p.Phe297Leu
ENST00000372228.7:c.2092T>C	ENSP00000361302.3:p.Phe698Leu
ENST00000402686.7:c.2026T>C	ENSP00000385797.3:p.Phe676Leu
ENST00000404875.6:c.1675T>C	ENSP00000384531.2:p.Phe559Leu
ENST00000423007.5:c.2026T>C	ENSP00000404119.1:p.Phe676Leu
ENST00000485278.5:n.2576T>C
NM_001077365.1:c.2026T>C	NP_001070833.1:p.Phe676Leu
NM_001077366.1:c.1864T>C	NP_001070834.1:p.Phe622Leu
NM_001136113.1:c.2026T>C	NP_001129585.1:p.Phe676Leu
NM_001136114.1:c.1675T>C	NP_001129586.1:p.Phe559Leu
NM_007171.3:c.2092T>C	NP_009102.3:p.Phe698Leu
XM_005272156.1:c.2092T>C	XP_005272213.1:p.Phe698Leu
XM_005272158.1:c.1930T>C	XP_005272215.1:p.Phe644Leu
XM_005272159.1:c.1741T>C	XP_005272216.1:p.Phe581Leu
XM_005272162.1:c.895T>C	XP_005272219.1:p.Phe299Leu
XM_006716932.1:c.1741T>C	XP_006716995.1:p.Phe581Leu
XM_011518140.1:c.1945T>C	XP_011516442.1:p.Phe649Leu
XM_011518141.1:c.1879T>C	XP_011516443.1:p.Phe627Leu
XM_011518142.1:c.1783T>C	XP_011516444.1:p.Phe595Leu
XM_011518143.1:c.1777T>C	XP_011516445.1:p.Phe593Leu
XM_011518145.1:c.1636T>C	XP_011516447.1:p.Phe546Leu
XM_011518147.1:c.964T>C	XP_011516449.1:p.Phe322Leu
XR_929703.1:n.2268T>C
NM_001353193.1:c.2092T>C	NP_001340122.1:p.Phe698Leu
NM_001353194.1:c.1864T>C	NP_001340123.1:p.Phe622Leu
NM_001353195.1:c.1675T>C	NP_001340124.1:p.Phe559Leu
NM_001353196.1:c.1936T>C	NP_001340125.1:p.Phe646Leu
NM_001353197.1:c.1930T>C	NP_001340126.1:p.Phe644Leu
NM_001353198.1:c.1930T>C	NP_001340127.1:p.Phe644Leu
NM_001353199.1:c.1741T>C	NP_001340128.1:p.Phe581Leu
NM_001353200.1:c.1570T>C	NP_001340129.1:p.Phe524Leu
NR_148391.1:n.2076T>C
NR_148392.1:n.2294T>C
NR_148393.1:n.2215T>C
NR_148394.1:n.1969T>C
NR_148395.1:n.2367T>C
NR_148396.1:n.2001T>C
NR_148397.1:n.2126T>C
NR_148398.1:n.2081T>C
NR_148399.1:n.2607T>C
NR_148400.1:n.2206T>C
XM_005272162.3:c.895T>C	XP_005272219.1:p.Phe299Leu
XM_006716932.2:c.1741T>C	XP_006716995.1:p.Phe581Leu
XM_011518140.2:c.1945T>C	XP_011516442.1:p.Phe649Leu
XM_011518141.2:c.1879T>C	XP_011516443.1:p.Phe627Leu
XM_011518142.2:c.1783T>C	XP_011516444.1:p.Phe595Leu
XM_011518143.2:c.1777T>C	XP_011516445.1:p.Phe593Leu
XM_011518145.2:c.1636T>C	XP_011516447.1:p.Phe546Leu
XM_017014205.2:c.895T>C	XP_016869694.1:p.Phe299Leu
XM_024447380.1:c.895T>C	XP_024303148.1:p.Phe299Leu
XM_024447381.1:c.1201T>C	XP_024303149.1:p.Phe401Leu
XM_024447382.1:c.895T>C	XP_024303150.1:p.Phe299Leu
XR_001746160.2:n.2196T>C
XR_001746162.2:n.2401T>C
XR_001746164.1:n.2118T>C
XR_001746166.2:n.2413T>C
NM_001077365.2:c.2026T>C MANE Select	NP_001070833.1:p.Phe676Leu
NM_001077366.2:c.1864T>C	NP_001070834.1:p.Phe622Leu
NM_001136113.2:c.2026T>C	NP_001129585.1:p.Phe676Leu
NM_001136114.2:c.1675T>C	NP_001129586.1:p.Phe559Leu
NM_001353193.2:c.2092T>C	NP_001340122.2:p.Phe698Leu
NM_001353194.2:c.1864T>C	NP_001340123.1:p.Phe622Leu
NM_001353195.2:c.1675T>C	NP_001340124.1:p.Phe559Leu
NM_001353196.2:c.1936T>C	NP_001340125.1:p.Phe646Leu
NM_001353197.2:c.1930T>C	NP_001340126.2:p.Phe644Leu
NM_001353198.2:c.1930T>C	NP_001340127.2:p.Phe644Leu
NM_001353199.2:c.1741T>C	NP_001340128.2:p.Phe581Leu
NM_001353200.2:c.1570T>C	NP_001340129.1:p.Phe524Leu
NM_001374689.1:c.2014T>C	NP_001361618.1:p.Phe672Leu
NM_001374690.1:c.1807T>C	NP_001361619.1:p.Phe603Leu
NM_001374691.1:c.1675T>C	NP_001361620.1:p.Phe559Leu
NM_001374692.1:c.1675T>C	NP_001361621.1:p.Phe559Leu
NM_001374693.1:c.1675T>C	NP_001361622.1:p.Phe559Leu
NM_001374695.1:c.1636T>C	NP_001361624.1:p.Phe546Leu
NM_007171.4:c.2092T>C	NP_009102.4:p.Phe698Leu
NR_148391.2:n.2060T>C
NR_148392.2:n.2278T>C
NR_148393.2:n.2199T>C
NR_148394.2:n.1953T>C
NR_148395.2:n.2351T>C
NR_148396.2:n.1985T>C
NR_148397.2:n.2110T>C
NR_148398.2:n.2065T>C
NR_148399.2:n.2591T>C
NR_148400.2:n.2190T>C

Linked Data

Genomic Alleles

Transcript Alleles