Allele Registry

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Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399315G= , CM000681.2:g.1399315G=	GRCh38
NC_000019.9:g.1399314G= , CM000681.1:g.1399314G=	GRCh37
NC_000019.8:g.1350314G=	NCBI36
NG_009785.1:g.7239C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.392-120C= MANE Select	ENSP00000252288.1:n.392-120C=
ENST00000447102.8:c.392-120C=	ENSP00000403536.2:n.392-120C=
ENST00000591788.3:c.75-120C=
ENST00000640164.1:n.225-120C=
ENST00000640762.1:c.323-120C=	ENSP00000492031.1:n.323-120C=
ENST00000252288.6:c.392-120C=	ENSP00000252288.1:n.392-120C=
ENST00000447102.7:c.392-120C=	ENSP00000403536.2:n.392-120C=
ENST00000591788.2:c.77-120C=	ENSP00000466341.2:n.77-120C=
NM_000156.5:c.392-120C=	NP_000147.1:n.392-120C=
NM_138924.2:c.392-120C=	NP_620279.1:n.392-120C=
NM_000156.6:c.392-120C= MANE Select	NP_000147.1:n.392-120C=
NM_138924.3:c.392-120C=	NP_620279.1:n.392-120C=