Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522978T>C , CM000671.2:g.131522978T>C	GRCh38
NC_000009.11:g.134398365T>C , CM000671.1:g.134398365T>C	GRCh37
NC_000009.10:g.133388186T>C	NCBI36
NG_008896.1:g.25077T>C
NG_008896.2:g.25077T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1888T>C	ENSP00000343034.7:p.Tyr630His
ENST00000404875.7:n.2590T>C
ENST00000423007.6:c.2107T>C	ENSP00000404119.2:p.Tyr703His
ENST00000677295.2:c.*2394T>C	ENSP00000504346.2:n.*2394T>C
ENST00000678264.2:c.*2233T>C	ENSP00000503157.2:n.*2233T>C
ENST00000682070.1:n.2360T>C
ENST00000682639.1:c.47T>C
ENST00000682813.1:n.2447T>C
ENST00000683231.1:c.47T>C
ENST00000683392.1:n.4642T>C
ENST00000683712.1:n.2455T>C
ENST00000683900.1:n.3950T>C
ENST00000684062.1:n.2716T>C
ENST00000684399.1:c.47T>C
ENST00000684579.1:n.3896T>C
ENST00000341012.12:c.1888T>C	ENSP00000343034.7:p.Tyr630His
ENST00000372220.5:c.919T>C	ENSP00000361294.5:p.Tyr307His
ENST00000372228.9:c.2116T>C	ENSP00000361302.3:p.Tyr706His
ENST00000402686.8:c.2050T>C MANE Select	ENSP00000385797.4:p.Tyr684His
ENST00000676640.1:c.2050T>C	ENSP00000503281.1:p.Tyr684His
ENST00000676803.1:c.1111T>C	ENSP00000503093.1:p.Tyr371His
ENST00000676835.1:c.*1265T>C	ENSP00000502911.1:n.*1265T>C
ENST00000677029.1:c.1594T>C	ENSP00000502936.1:p.Tyr532His
ENST00000677099.1:c.*1760T>C	ENSP00000504553.1:n.*1760T>C
ENST00000677216.1:c.1699T>C	ENSP00000503772.1:p.Tyr567His
ENST00000677221.1:n.1075T>C
ENST00000677295.1:c.*1272T>C	ENSP00000504346.1:n.*1272T>C
ENST00000677444.1:c.1995T>C
ENST00000677586.1:n.1417T>C
ENST00000677626.1:c.1699T>C	ENSP00000503552.1:p.Tyr567His
ENST00000677853.1:c.*1058T>C	ENSP00000503488.1:n.*1058T>C
ENST00000678264.1:c.*1427T>C	ENSP00000503157.1:n.*1427T>C
ENST00000678303.1:c.1960T>C	ENSP00000503696.1:p.Tyr654His
ENST00000678366.1:c.*2299T>C	ENSP00000504353.1:n.*2299T>C
ENST00000678546.1:c.*1995T>C	ENSP00000503062.1:n.*1995T>C
ENST00000678548.1:c.*2189T>C	ENSP00000503934.1:n.*2189T>C
ENST00000678626.1:n.1886T>C
ENST00000678739.1:c.*2216T>C	ENSP00000503806.1:n.*2216T>C
ENST00000678833.1:c.*1802T>C	ENSP00000503893.1:n.*1802T>C
ENST00000679023.1:c.1888T>C	ENSP00000503718.1:p.Tyr630His
ENST00000679076.1:c.1669T>C
ENST00000679111.1:c.*806T>C	ENSP00000504257.1:n.*806T>C
ENST00000679189.1:c.1699T>C	ENSP00000503356.1:p.Tyr567His
ENST00000341012.11:c.1888T>C	ENSP00000343034.7:p.Tyr630His
ENST00000372220.4:c.913T>C	ENSP00000361294.4:p.Tyr305His
ENST00000372228.7:c.2116T>C	ENSP00000361302.3:p.Tyr706His
ENST00000402686.7:c.2050T>C	ENSP00000385797.3:p.Tyr684His
ENST00000404875.6:c.1699T>C	ENSP00000384531.2:p.Tyr567His
ENST00000423007.5:c.2050T>C	ENSP00000404119.1:p.Tyr684His
ENST00000485278.5:n.2600T>C
NM_001077365.1:c.2050T>C	NP_001070833.1:p.Tyr684His
NM_001077366.1:c.1888T>C	NP_001070834.1:p.Tyr630His
NM_001136113.1:c.2050T>C	NP_001129585.1:p.Tyr684His
NM_001136114.1:c.1699T>C	NP_001129586.1:p.Tyr567His
NM_007171.3:c.2116T>C	NP_009102.3:p.Tyr706His
XM_005272156.1:c.2116T>C	XP_005272213.1:p.Tyr706His
XM_005272158.1:c.1954T>C	XP_005272215.1:p.Tyr652His
XM_005272159.1:c.1765T>C	XP_005272216.1:p.Tyr589His
XM_005272162.1:c.919T>C	XP_005272219.1:p.Tyr307His
XM_006716932.1:c.1765T>C	XP_006716995.1:p.Tyr589His
XM_011518140.1:c.1969T>C	XP_011516442.1:p.Tyr657His
XM_011518141.1:c.1903T>C	XP_011516443.1:p.Tyr635His
XM_011518142.1:c.1807T>C	XP_011516444.1:p.Tyr603His
XM_011518143.1:c.1801T>C	XP_011516445.1:p.Tyr601His
XM_011518145.1:c.1660T>C	XP_011516447.1:p.Tyr554His
XM_011518147.1:c.988T>C	XP_011516449.1:p.Tyr330His
XR_929703.1:n.2292T>C
NM_001353193.1:c.2116T>C	NP_001340122.1:p.Tyr706His
NM_001353194.1:c.1888T>C	NP_001340123.1:p.Tyr630His
NM_001353195.1:c.1699T>C	NP_001340124.1:p.Tyr567His
NM_001353196.1:c.1960T>C	NP_001340125.1:p.Tyr654His
NM_001353197.1:c.1954T>C	NP_001340126.1:p.Tyr652His
NM_001353198.1:c.1954T>C	NP_001340127.1:p.Tyr652His
NM_001353199.1:c.1765T>C	NP_001340128.1:p.Tyr589His
NM_001353200.1:c.1594T>C	NP_001340129.1:p.Tyr532His
NR_148391.1:n.2100T>C
NR_148392.1:n.2318T>C
NR_148393.1:n.2239T>C
NR_148394.1:n.1993T>C
NR_148395.1:n.2391T>C
NR_148396.1:n.2025T>C
NR_148397.1:n.2150T>C
NR_148398.1:n.2105T>C
NR_148399.1:n.2631T>C
NR_148400.1:n.2230T>C
XM_005272162.3:c.919T>C	XP_005272219.1:p.Tyr307His
XM_006716932.2:c.1765T>C	XP_006716995.1:p.Tyr589His
XM_011518140.2:c.1969T>C	XP_011516442.1:p.Tyr657His
XM_011518141.2:c.1903T>C	XP_011516443.1:p.Tyr635His
XM_011518142.2:c.1807T>C	XP_011516444.1:p.Tyr603His
XM_011518143.2:c.1801T>C	XP_011516445.1:p.Tyr601His
XM_011518145.2:c.1660T>C	XP_011516447.1:p.Tyr554His
XM_017014205.2:c.919T>C	XP_016869694.1:p.Tyr307His
XM_024447380.1:c.919T>C	XP_024303148.1:p.Tyr307His
XM_024447381.1:c.1225T>C	XP_024303149.1:p.Tyr409His
XM_024447382.1:c.919T>C	XP_024303150.1:p.Tyr307His
XR_001746160.2:n.2220T>C
XR_001746162.2:n.2425T>C
XR_001746164.1:n.2142T>C
XR_001746166.2:n.2437T>C
NM_001077365.2:c.2050T>C MANE Select	NP_001070833.1:p.Tyr684His
NM_001077366.2:c.1888T>C	NP_001070834.1:p.Tyr630His
NM_001136113.2:c.2050T>C	NP_001129585.1:p.Tyr684His
NM_001136114.2:c.1699T>C	NP_001129586.1:p.Tyr567His
NM_001353193.2:c.2116T>C	NP_001340122.2:p.Tyr706His
NM_001353194.2:c.1888T>C	NP_001340123.1:p.Tyr630His
NM_001353195.2:c.1699T>C	NP_001340124.1:p.Tyr567His
NM_001353196.2:c.1960T>C	NP_001340125.1:p.Tyr654His
NM_001353197.2:c.1954T>C	NP_001340126.2:p.Tyr652His
NM_001353198.2:c.1954T>C	NP_001340127.2:p.Tyr652His
NM_001353199.2:c.1765T>C	NP_001340128.2:p.Tyr589His
NM_001353200.2:c.1594T>C	NP_001340129.1:p.Tyr532His
NM_001374689.1:c.2038T>C	NP_001361618.1:p.Tyr680His
NM_001374690.1:c.1831T>C	NP_001361619.1:p.Tyr611His
NM_001374691.1:c.1699T>C	NP_001361620.1:p.Tyr567His
NM_001374692.1:c.1699T>C	NP_001361621.1:p.Tyr567His
NM_001374693.1:c.1699T>C	NP_001361622.1:p.Tyr567His
NM_001374695.1:c.1660T>C	NP_001361624.1:p.Tyr554His
NM_007171.4:c.2116T>C	NP_009102.4:p.Tyr706His
NR_148391.2:n.2084T>C
NR_148392.2:n.2302T>C
NR_148393.2:n.2223T>C
NR_148394.2:n.1977T>C
NR_148395.2:n.2375T>C
NR_148396.2:n.2009T>C
NR_148397.2:n.2134T>C
NR_148398.2:n.2089T>C
NR_148399.2:n.2615T>C
NR_148400.2:n.2214T>C

Linked Data

Genomic Alleles

Transcript Alleles