Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82265652C>T , CM000679.2:g.82265652C>T	GRCh38
NC_000017.10:g.80223528C>T , CM000679.1:g.80223528C>T	GRCh37
NC_000017.9:g.77816817C>T	NCBI36
NG_012828.1:g.13046G>A
NG_012828.2:g.13091G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000392334.7:c.187+34G>A	ENSP00000376146.2:n.187+34G>A
ENST00000314028.11:c.187+34G>A MANE Select	ENSP00000324464.6:n.187+34G>A
ENST00000314028.10:c.187+34G>A	ENSP00000324464.6:n.187+34G>A
ENST00000392334.6:c.187+34G>A	ENSP00000376146.2:n.187+34G>A
ENST00000398519.9:c.187+34G>A	ENSP00000381531.5:n.187+34G>A
ENST00000403276.7:c.187+34G>A	ENSP00000385769.3:n.187+34G>A
ENST00000578194.5:n.393+34G>A
ENST00000579308.1:n.246G>A
ENST00000579316.5:n.244+34G>A
ENST00000580061.5:n.187+34G>A
ENST00000580446.1:c.76+7654G>A	ENSP00000463757.1:n.76+7654G>A
ENST00000581241.5:n.175+34G>A
ENST00000581660.5:c.*225+34G>A	ENSP00000464551.1:n.*225+34G>A
ENST00000582844.5:n.145+34G>A
ENST00000584472.5:n.272+34G>A
ENST00000585026.1:c.*233+34G>A	ENSP00000462144.1:n.*233+34G>A
NM_001893.4:c.187+34G>A	NP_001884.2:n.187+34G>A
NM_139062.2:c.187+34G>A	NP_620693.1:n.187+34G>A
NR_110578.1:n.548+34G>A
XM_005256336.2:c.187+34G>A	XP_005256393.1:n.187+34G>A
XM_005256337.3:c.187+34G>A	XP_005256394.1:n.187+34G>A
XR_243518.2:n.507+34G>A
XR_430028.2:n.507+34G>A
XR_933922.1:n.507+34G>A
XR_933923.1:n.507+34G>A
NM_001363749.1:c.187+34G>A	NP_001350678.1:n.187+34G>A
NM_001893.5:c.187+34G>A	NP_001884.2:n.187+34G>A
NM_139062.3:c.187+34G>A	NP_620693.1:n.187+34G>A
NR_110578.2:n.556+34G>A
XM_005256336.4:c.187+34G>A	XP_005256393.1:n.187+34G>A
XR_002957961.1:n.506+34G>A
XR_243518.4:n.506+34G>A
XR_430028.4:n.506+34G>A
XR_933922.3:n.506+34G>A
XR_933923.3:n.506+34G>A
NM_001363749.2:c.187+34G>A	NP_001350678.1:n.187+34G>A
NM_001893.6:c.187+34G>A MANE Select	NP_001884.2:n.187+34G>A
NM_139062.4:c.187+34G>A	NP_620693.1:n.187+34G>A

Linked Data

Genomic Alleles

Transcript Alleles