Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.[29942821C>T;29943271C>T] , CM000668.2:g.[29942821C>T;29943271C>T]	GRCh38
NC_000006.11:g.[29910598C>T;29911048C>T] , CM000668.1:g.[29910598C>T;29911048C>T]	GRCh37
NC_000006.10:g.[30018577C>T;30019027C>T]	NCBI36
NG_029217.2:g.[5356C>T;5806C>T]

Transcript Alleles

HGVS	Amino-acid change
ENST00000638375.2:c.[138C>T;347C>T]	ENSP00000492789.2:p.[Phe46=;Ser116Phe]
ENST00000706892.1:n.[414C>T;623C>T]
ENST00000706893.1:c.[138C>T;347C>T]	ENSP00000516609.1:p.[Phe46=;Ser116Phe]
ENST00000706894.1:c.[138C>T;347C>T]	ENSP00000516610.1:p.[Phe46=;Ser116Phe]
ENST00000706895.1:n.[414C>T;623C>T]
ENST00000706896.1:n.[414C>T;623C>T]
ENST00000706897.1:n.[414C>T;623C>T]
ENST00000706898.1:c.[138C>T;347C>T]	ENSP00000516611.1:p.[Phe46=;Ser116Phe]
ENST00000706899.1:n.[414C>T;623C>T]
ENST00000706900.1:c.[54C>T;263C>T]	ENSP00000516617.1:p.[Phe18=;Ser88Phe]
ENST00000706901.1:c.[138C>T;347C>T]	ENSP00000516612.1:p.[Phe46=;Ser116Phe]
ENST00000706902.1:c.[138C>T;347C>T]	ENSP00000516613.1:p.[Phe46=;Ser116Phe]
ENST00000706903.1:c.[138C>T;347C>T]	ENSP00000516614.1:p.[Phe46=;Ser116Phe]
ENST00000706904.1:c.[138C>T;347C>T]	ENSP00000516615.1:p.[Phe46=;Ser116Phe]
ENST00000706905.1:c.[138C>T;347C>T]	ENSP00000516616.1:p.[Phe46=;Ser116Phe]
ENST00000376809.10:c.[138C>T;347C>T] MANE Select	ENSP00000366005.5:p.[Phe46=;Ser116Phe]
ENST00000638375.1:c.[138C>T;347C>T]	ENSP00000492789.1:p.[Phe46=;Ser116Phe]
ENST00000376802.2:c.[138C>T;347C>T]	ENSP00000365998.2:p.[Phe46=;Ser116Phe]
ENST00000376806.9:c.[138C>T;347C>T]	ENSP00000366002.5:p.[Phe46=;Ser116Phe]
ENST00000376809.9:c.[138C>T;347C>T]	ENSP00000366005.5:p.[Phe46=;Ser116Phe]
ENST00000396634.5:c.[138C>T;347C>T]	ENSP00000379873.1:p.[Phe46=;Ser116Phe]
ENST00000461903.1:n.[138C>T;588C>T]
ENST00000479320.5:n.[138C>T;588C>T]
ENST00000495183.5:n.[140C>T;590C>T]
ENST00000496081.5:n.[144C>T;178-14C>T]
NM_002116.7:c.[138C>T;347C>T]	NP_002107.3:p.[Phe46=;Ser116Phe]
NM_002116.8:c.[138C>T;347C>T] MANE Select	NP_002107.3:p.[Phe46=;Ser116Phe]