Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.81301782T= , CM000677.2:g.81301782T=	GRCh38
NC_000015.9:g.81594123T= , CM000677.1:g.81594123T=	GRCh37
NC_000015.8:g.79381178T=	NCBI36
NG_029933.1:g.109905T=

Transcript Alleles

HGVS	Amino-acid Change
NM_172217.5:c.3318+270T= MANE Select	NP_757366.2:n.3318+270T=
ENST00000683961.1:c.3318+270T= MANE Select	ENSP00000508085.1:n.3318+270T=
NM_001172128.1:c.3318+270T=	NP_001165599.1:n.3318+270T=
NM_001172128.2:c.3318+270T=	NP_001165599.1:n.3318+270T=
NM_001352684.1:c.1488+270T=	NP_001339613.1:n.1488+270T=
NM_001352684.2:c.1488+270T=	NP_001339613.1:n.1488+270T=
NM_001352685.1:c.2808+270T=	NP_001339614.1:n.2808+270T=
NM_001352685.2:c.2808+270T=	NP_001339614.1:n.2808+270T=
NM_001352686.1:c.3471+270T=	NP_001339615.1:n.3471+270T=
NM_001352686.2:c.3471+270T=	NP_001339615.1:n.3471+270T=
NM_004513.5:c.1215+270T=	NP_004504.3:n.1215+270T=
NM_004513.6:c.1215+270T=	NP_004504.3:n.1215+270T=
NM_172217.3:c.3318+270T=	NP_757366.2:n.3318+270T=
NM_172217.4:c.3318+270T=	NP_757366.2:n.3318+270T=
NR_148035.1:n.3530+270T=
NR_148035.2:n.3529+270T=
ENST00000302987.10:c.3459+270T=	ENSP00000302935.5:n.3459+270T=
ENST00000302987.8:c.3318+270T=	ENSP00000302935.4:n.3318+270T=
ENST00000302987.9:c.3459+270T=	ENSP00000302935.5:n.3459+270T=
ENST00000360547.9:c.*2495+270T=	ENSP00000456972.1:n.*2495+270T=
ENST00000394652.6:c.1215+270T=	ENSP00000378147.2:n.1215+270T=
ENST00000394660.6:c.3318+270T=	ENSP00000378155.2:n.3318+270T=
ENST00000558332.3:c.1229+270T=
ENST00000558857.5:c.1432+270T=	ENSP00000453131.1:n.1432+270T=
ENST00000559388.4:c.1215+270T=	ENSP00000458125.2:n.1215+270T=
ENST00000560115.5:c.3288+270T=
ENST00000706926.1:c.3318+270T=	ENSP00000516648.1:n.3318+270T=
XM_005254342.2:c.3459+270T=	XP_005254399.1:n.3459+270T=
XM_005254346.3:c.1215+270T=	XP_005254403.1:n.1215+270T=
XM_011521518.1:c.3180+270T=	XP_011519820.1:n.3180+270T=
XM_011521519.1:c.3318+270T=	XP_011519821.1:n.3318+270T=
XM_011521520.1:c.3318+270T=	XP_011519822.1:n.3318+270T=
XR_931805.1:n.3495+270T=