Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522938G>C , CM000671.2:g.131522938G>C	GRCh38
NC_000009.11:g.134398325G>C , CM000671.1:g.134398325G>C	GRCh37
NC_000009.10:g.133388146G>C	NCBI36
NG_008896.1:g.25037G>C
NG_008896.2:g.25037G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1848G>C	ENSP00000343034.7:p.Gln616His
ENST00000404875.7:n.2550G>C
ENST00000423007.6:c.2067G>C	ENSP00000404119.2:p.Gln689His
ENST00000677295.2:c.*2354G>C	ENSP00000504346.2:n.*2354G>C
ENST00000678264.2:c.*2193G>C	ENSP00000503157.2:n.*2193G>C
ENST00000682070.1:n.2320G>C
ENST00000682639.1:c.7G>C
ENST00000682813.1:n.2408-1G>C
ENST00000683231.1:c.7G>C
ENST00000683392.1:n.4602G>C
ENST00000683712.1:n.2415G>C
ENST00000683900.1:n.3910G>C
ENST00000684062.1:n.2676G>C
ENST00000684399.1:c.7G>C
ENST00000684579.1:n.3856G>C
ENST00000341012.12:c.1848G>C	ENSP00000343034.7:p.Gln616His
ENST00000372220.5:c.879G>C	ENSP00000361294.5:p.Gln293His
ENST00000372228.9:c.2076G>C	ENSP00000361302.3:p.Gln692His
ENST00000402686.8:c.2010G>C MANE Select	ENSP00000385797.4:p.Gln670His
ENST00000676640.1:c.2010G>C	ENSP00000503281.1:p.Gln670His
ENST00000676803.1:c.1071G>C	ENSP00000503093.1:p.Gln357His
ENST00000676835.1:c.*1225G>C	ENSP00000502911.1:n.*1225G>C
ENST00000677029.1:c.1554G>C	ENSP00000502936.1:p.Gln518His
ENST00000677099.1:c.*1720G>C	ENSP00000504553.1:n.*1720G>C
ENST00000677216.1:c.1659G>C	ENSP00000503772.1:p.Gln553His
ENST00000677221.1:n.1035G>C
ENST00000677295.1:c.*1232G>C	ENSP00000504346.1:n.*1232G>C
ENST00000677444.1:c.1955G>C
ENST00000677586.1:n.1377G>C
ENST00000677626.1:c.1659G>C	ENSP00000503552.1:p.Gln553His
ENST00000677853.1:c.*1018G>C	ENSP00000503488.1:n.*1018G>C
ENST00000678264.1:c.*1387G>C	ENSP00000503157.1:n.*1387G>C
ENST00000678303.1:c.1920G>C	ENSP00000503696.1:p.Gln640His
ENST00000678366.1:c.*2259G>C	ENSP00000504353.1:n.*2259G>C
ENST00000678546.1:c.*1955G>C	ENSP00000503062.1:n.*1955G>C
ENST00000678548.1:c.*2149G>C	ENSP00000503934.1:n.*2149G>C
ENST00000678626.1:n.1846G>C
ENST00000678739.1:c.*2176G>C	ENSP00000503806.1:n.*2176G>C
ENST00000678833.1:c.*1762G>C	ENSP00000503893.1:n.*1762G>C
ENST00000679023.1:c.1848G>C	ENSP00000503718.1:p.Gln616His
ENST00000679076.1:c.1629G>C
ENST00000679111.1:c.*766G>C	ENSP00000504257.1:n.*766G>C
ENST00000679189.1:c.1659G>C	ENSP00000503356.1:p.Gln553His
ENST00000341012.11:c.1848G>C	ENSP00000343034.7:p.Gln616His
ENST00000372220.4:c.873G>C	ENSP00000361294.4:p.Gln291His
ENST00000372228.7:c.2076G>C	ENSP00000361302.3:p.Gln692His
ENST00000402686.7:c.2010G>C	ENSP00000385797.3:p.Gln670His
ENST00000404875.6:c.1659G>C	ENSP00000384531.2:p.Gln553His
ENST00000423007.5:c.2010G>C	ENSP00000404119.1:p.Gln670His
ENST00000485278.5:n.2560G>C
NM_001077365.1:c.2010G>C	NP_001070833.1:p.Gln670His
NM_001077366.1:c.1848G>C	NP_001070834.1:p.Gln616His
NM_001136113.1:c.2010G>C	NP_001129585.1:p.Gln670His
NM_001136114.1:c.1659G>C	NP_001129586.1:p.Gln553His
NM_007171.3:c.2076G>C	NP_009102.3:p.Gln692His
XM_005272156.1:c.2076G>C	XP_005272213.1:p.Gln692His
XM_005272158.1:c.1914G>C	XP_005272215.1:p.Gln638His
XM_005272159.1:c.1725G>C	XP_005272216.1:p.Gln575His
XM_005272162.1:c.879G>C	XP_005272219.1:p.Gln293His
XM_006716932.1:c.1725G>C	XP_006716995.1:p.Gln575His
XM_011518140.1:c.1929G>C	XP_011516442.1:p.Gln643His
XM_011518141.1:c.1863G>C	XP_011516443.1:p.Gln621His
XM_011518142.1:c.1767G>C	XP_011516444.1:p.Gln589His
XM_011518143.1:c.1761G>C	XP_011516445.1:p.Gln587His
XM_011518145.1:c.1620G>C	XP_011516447.1:p.Gln540His
XM_011518147.1:c.948G>C	XP_011516449.1:p.Gln316His
XR_929703.1:n.2252G>C
NM_001353193.1:c.2076G>C	NP_001340122.1:p.Gln692His
NM_001353194.1:c.1848G>C	NP_001340123.1:p.Gln616His
NM_001353195.1:c.1659G>C	NP_001340124.1:p.Gln553His
NM_001353196.1:c.1920G>C	NP_001340125.1:p.Gln640His
NM_001353197.1:c.1914G>C	NP_001340126.1:p.Gln638His
NM_001353198.1:c.1914G>C	NP_001340127.1:p.Gln638His
NM_001353199.1:c.1725G>C	NP_001340128.1:p.Gln575His
NM_001353200.1:c.1554G>C	NP_001340129.1:p.Gln518His
NR_148391.1:n.2060G>C
NR_148392.1:n.2278G>C
NR_148393.1:n.2199G>C
NR_148394.1:n.1953G>C
NR_148395.1:n.2351G>C
NR_148396.1:n.1985G>C
NR_148397.1:n.2110G>C
NR_148398.1:n.2065G>C
NR_148399.1:n.2591G>C
NR_148400.1:n.2190G>C
XM_005272162.3:c.879G>C	XP_005272219.1:p.Gln293His
XM_006716932.2:c.1725G>C	XP_006716995.1:p.Gln575His
XM_011518140.2:c.1929G>C	XP_011516442.1:p.Gln643His
XM_011518141.2:c.1863G>C	XP_011516443.1:p.Gln621His
XM_011518142.2:c.1767G>C	XP_011516444.1:p.Gln589His
XM_011518143.2:c.1761G>C	XP_011516445.1:p.Gln587His
XM_011518145.2:c.1620G>C	XP_011516447.1:p.Gln540His
XM_017014205.2:c.879G>C	XP_016869694.1:p.Gln293His
XM_024447380.1:c.879G>C	XP_024303148.1:p.Gln293His
XM_024447381.1:c.1185G>C	XP_024303149.1:p.Gln395His
XM_024447382.1:c.879G>C	XP_024303150.1:p.Gln293His
XR_001746160.2:n.2180G>C
XR_001746162.2:n.2385G>C
XR_001746164.1:n.2102G>C
XR_001746166.2:n.2397G>C
NM_001077365.2:c.2010G>C MANE Select	NP_001070833.1:p.Gln670His
NM_001077366.2:c.1848G>C	NP_001070834.1:p.Gln616His
NM_001136113.2:c.2010G>C	NP_001129585.1:p.Gln670His
NM_001136114.2:c.1659G>C	NP_001129586.1:p.Gln553His
NM_001353193.2:c.2076G>C	NP_001340122.2:p.Gln692His
NM_001353194.2:c.1848G>C	NP_001340123.1:p.Gln616His
NM_001353195.2:c.1659G>C	NP_001340124.1:p.Gln553His
NM_001353196.2:c.1920G>C	NP_001340125.1:p.Gln640His
NM_001353197.2:c.1914G>C	NP_001340126.2:p.Gln638His
NM_001353198.2:c.1914G>C	NP_001340127.2:p.Gln638His
NM_001353199.2:c.1725G>C	NP_001340128.2:p.Gln575His
NM_001353200.2:c.1554G>C	NP_001340129.1:p.Gln518His
NM_001374689.1:c.1998G>C	NP_001361618.1:p.Gln666His
NM_001374690.1:c.1791G>C	NP_001361619.1:p.Gln597His
NM_001374691.1:c.1659G>C	NP_001361620.1:p.Gln553His
NM_001374692.1:c.1659G>C	NP_001361621.1:p.Gln553His
NM_001374693.1:c.1659G>C	NP_001361622.1:p.Gln553His
NM_001374695.1:c.1620G>C	NP_001361624.1:p.Gln540His
NM_007171.4:c.2076G>C	NP_009102.4:p.Gln692His
NR_148391.2:n.2044G>C
NR_148392.2:n.2262G>C
NR_148393.2:n.2183G>C
NR_148394.2:n.1937G>C
NR_148395.2:n.2335G>C
NR_148396.2:n.1969G>C
NR_148397.2:n.2094G>C
NR_148398.2:n.2049G>C
NR_148399.2:n.2575G>C
NR_148400.2:n.2174G>C

Linked Data

Genomic Alleles

Transcript Alleles