Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58695191T>C , CM000679.2:g.58695191T>C	GRCh38
NC_000017.10:g.56772552T>C , CM000679.1:g.56772552T>C	GRCh37
NC_000017.9:g.54127551T>C	NCBI36
NG_023199.1:g.7590T>C , LRG_314:g.7590T>C
NG_047169.1:g.1889A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461271.6:c.53+2T>C	ENSP00000464056.2:n.53+2T>C
ENST00000697675.1:n.1500T>C
ENST00000697676.1:n.464+2T>C
ENST00000697677.1:n.1485+2T>C
ENST00000697678.1:n.306+2T>C
ENST00000697679.1:n.1478+2T>C
ENST00000697680.1:c.*1268+2T>C	ENSP00000513392.1:n.*1268+2T>C
ENST00000697681.1:c.*1270T>C	ENSP00000513393.1:n.*1270T>C
ENST00000697683.1:c.*1268+2T>C	ENSP00000513395.1:n.*1268+2T>C
ENST00000697684.1:n.464+2T>C
ENST00000697685.1:c.*1268+2T>C	ENSP00000513396.1:n.*1268+2T>C
ENST00000697686.1:c.53+2T>C	ENSP00000513397.1:n.53+2T>C
ENST00000697687.1:n.450+2T>C
ENST00000697688.1:n.450+2T>C
ENST00000697689.1:c.*1107+2T>C	ENSP00000513398.1:n.*1107+2T>C
ENST00000697690.1:c.404+2T>C	ENSP00000513399.1:n.404+2T>C
ENST00000697691.1:c.*376+2T>C	ENSP00000513400.1:n.*376+2T>C
ENST00000697692.1:c.*416+2T>C	ENSP00000513401.1:n.*416+2T>C
ENST00000697693.1:n.1181T>C
ENST00000697694.1:c.53+2T>C	ENSP00000513402.1:n.53+2T>C
ENST00000697695.1:n.1011+2T>C
ENST00000337432.9:c.404+2T>C MANE Select	ENSP00000336701.4:n.404+2T>C
ENST00000337432.8:c.404+2T>C	ENSP00000336701.4:n.404+2T>C
ENST00000413590.5:c.42+2T>C
ENST00000421782.3:c.406T>C	ENSP00000391450.2:p.Ter136Gln
ENST00000425173.5:c.200+2T>C	ENSP00000407282.1:n.200+2T>C
ENST00000461271.5:c.53+2T>C	ENSP00000464056.1:n.53+2T>C
ENST00000475762.5:c.*1107+2T>C	ENSP00000432421.1:n.*1107+2T>C
ENST00000482007.5:c.404+2T>C	ENSP00000433332.1:n.404+2T>C
ENST00000486827.1:c.*1270T>C	ENSP00000436761.1:n.*1270T>C
ENST00000487525.5:c.404+2T>C	ENSP00000431637.1:n.404+2T>C
ENST00000487921.5:n.316+2T>C
ENST00000583539.5:c.404+2T>C	ENSP00000463121.1:n.404+2T>C
ENST00000584617.5:c.127-1502T>C
ENST00000622327.4:c.140+2T>C	ENSP00000482326.1:n.140+2T>C
NM_002876.3:c.406T>C	NP_002867.1:p.Ter136Gln
NM_058216.2:c.404+2T>C	NP_478123.1:n.404+2T>C
NR_103872.1:n.475+2T>C
NR_103873.1:n.374T>C
XM_006722001.2:c.404+2T>C	XP_006722064.1:n.404+2T>C
XM_006722002.2:c.404+2T>C	XP_006722065.1:n.404+2T>C
XM_006722004.2:c.53+2T>C	XP_006722067.1:n.53+2T>C
XM_006722005.2:c.53+2T>C	XP_006722068.1:n.53+2T>C
XM_011525092.1:c.53+2T>C	XP_011523394.1:n.53+2T>C
XM_011525093.1:c.53+2T>C	XP_011523395.1:n.53+2T>C
XM_011525094.1:c.53+2T>C	XP_011523396.1:n.53+2T>C
XR_934513.1:n.477+2T>C
XR_934514.1:n.477+2T>C
XM_006722001.4:c.404+2T>C	XP_006722064.1:n.404+2T>C
XM_006722002.4:c.404+2T>C	XP_006722065.1:n.404+2T>C
XM_006722004.3:c.53+2T>C	XP_006722067.1:n.53+2T>C
XM_006722005.3:c.53+2T>C	XP_006722068.1:n.53+2T>C
XM_011525092.2:c.53+2T>C	XP_011523394.1:n.53+2T>C
XM_011525093.2:c.53+2T>C	XP_011523395.1:n.53+2T>C
XM_011525094.2:c.53+2T>C	XP_011523396.1:n.53+2T>C
XM_017024914.1:c.53+2T>C	XP_016880403.1:n.53+2T>C
XM_017024915.1:c.53+2T>C	XP_016880404.1:n.53+2T>C
XM_017024916.1:c.53+2T>C	XP_016880405.1:n.53+2T>C
XM_017024917.1:c.53+2T>C	XP_016880406.1:n.53+2T>C
XM_017024918.2:c.53+2T>C	XP_016880407.1:n.53+2T>C
XM_017024919.1:c.53+2T>C	XP_016880408.1:n.53+2T>C
XR_934513.3:n.908+2T>C
XR_934514.3:n.908+2T>C
NM_058216.3:c.404+2T>C MANE Select	NP_478123.1:n.404+2T>C
NR_103872.2:n.446+2T>C
NM_002876.4:c.406T>C	NP_002867.1:p.Ter136Gln

Linked Data

Genomic Alleles

Transcript Alleles