Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.[80117006A>G;80117015G>C] , CM000679.2:g.[80117006A>G;80117015G>C]	GRCh38
NC_000017.10:g.[78090805A>G;78090814G>C] , CM000679.1:g.[78090805A>G;78090814G>C]	GRCh37
NC_000017.9:g.[75705400A>G;75705409G>C]	NCBI36
NG_009822.1:g.[20451A>G;20460G>C] , LRG_673:g.[20451A>G;20460G>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.[2228A>G;2237G>C]	ENSP00000460543.2:p.[Gln743Arg;Trp746Ser]
ENST00000572080.2:c.[366A>G;375G>C]	ENSP00000459972.2:n.[366A>G;375G>C]
ENST00000577106.6:c.[2228A>G;2237G>C]	ENSP00000458306.2:p.[Gln743Arg;Trp746Ser]
ENST00000302262.8:c.[2228A>G;2237G>C] MANE Select	ENSP00000305692.3:p.[Gln743Arg;Trp746Ser]
ENST00000302262.7:c.[2228A>G;2237G>C]	ENSP00000305692.3:p.[Gln743Arg;Trp746Ser]
ENST00000390015.7:c.[2228A>G;2237G>C]	ENSP00000374665.3:p.[Gln743Arg;Trp746Ser]
ENST00000572080.1:c.[647A>G;656G>C]
ENST00000573556.1:n.[181A>G;190G>C]
NM_000152.3:c.[2228A>G;2237G>C] , LRG_673t1:c.[2228A>G;2237G>C]	NP_000143.2:p.[Gln743Arg;Trp746Ser]
NM_001079803.1:c.[2228A>G;2237G>C]	NP_001073271.1:p.[Gln743Arg;Trp746Ser]
NM_001079804.1:c.[2228A>G;2237G>C]	NP_001073272.1:p.[Gln743Arg;Trp746Ser]
XM_005257193.1:c.[2228A>G;2237G>C]	XP_005257250.1:p.[Gln743Arg;Trp746Ser]
XM_005257194.3:c.[2228A>G;2237G>C]	XP_005257251.1:p.[Gln743Arg;Trp746Ser]
NM_000152.4:c.[2228A>G;2237G>C]	NP_000143.2:p.[Gln743Arg;Trp746Ser]
NM_001079803.2:c.[2228A>G;2237G>C]	NP_001073271.1:p.[Gln743Arg;Trp746Ser]
NM_001079804.2:c.[2228A>G;2237G>C]	NP_001073272.1:p.[Gln743Arg;Trp746Ser]
XM_005257193.2:c.[2228A>G;2237G>C]	XP_005257250.1:p.[Gln743Arg;Trp746Ser]
XM_005257194.4:c.[2228A>G;2237G>C]	XP_005257251.1:p.[Gln743Arg;Trp746Ser]
NM_000152.5:c.[2228A>G;2237G>C] MANE Select	NP_000143.2:p.[Gln743Arg;Trp746Ser]
NM_001079803.3:c.[2228A>G;2237G>C]	NP_001073271.1:p.[Gln743Arg;Trp746Ser]
NM_001079804.3:c.[2228A>G;2237G>C]	NP_001073272.1:p.[Gln743Arg;Trp746Ser]