Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47175018G>C , CM000685.2:g.47175018G>C	GRCh38
NC_000023.10:g.47034417G>C , CM000685.1:g.47034417G>C	GRCh37
NC_000023.9:g.46919361G>C	NCBI36
NG_012548.1:g.34787G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005676.5:c.503-1G>C MANE Select	NP_005667.2:n.503-1G>C
ENST00000377604.8:c.503-1G>C MANE Select	ENSP00000366829.3:n.503-1G>C
NM_001204466.1:c.272-1G>C	NP_001191395.1:n.272-1G>C
NM_001204466.2:c.272-1G>C	NP_001191395.1:n.272-1G>C
NM_001204467.1:c.503-1G>C	NP_001191396.1:n.503-1G>C
NM_001204467.2:c.503-1G>C	NP_001191396.1:n.503-1G>C
NM_001204468.1:c.698-1G>C	NP_001191397.1:n.698-1G>C
NM_001204468.2:c.698-1G>C	NP_001191397.1:n.698-1G>C
NM_005676.4:c.503-1G>C	NP_005667.2:n.503-1G>C
NM_152856.2:c.272-1G>C	NP_690595.1:n.272-1G>C
NM_152856.3:c.272-1G>C	NP_690595.1:n.272-1G>C
ENST00000329236.8:c.698-1G>C	ENSP00000328848.8:n.698-1G>C
ENST00000345781.10:c.272-1G>C	ENSP00000329659.6:n.272-1G>C
ENST00000377604.7:c.503-1G>C	ENSP00000366829.3:n.503-1G>C
ENST00000496012.6:n.7G>C
ENST00000628161.2:c.272-1G>C	ENSP00000486115.1:n.272-1G>C
XM_005272677.3:c.698-1G>C	XP_005272734.1:n.698-1G>C
XM_005272677.4:c.698-1G>C	XP_005272734.1:n.698-1G>C
XM_005272678.3:c.467-1G>C	XP_005272735.1:n.467-1G>C
XM_005272678.4:c.467-1G>C	XP_005272735.1:n.467-1G>C
XM_005272679.3:c.467-1G>C	XP_005272736.1:n.467-1G>C
XM_005272679.4:c.467-1G>C	XP_005272736.1:n.467-1G>C
XM_006724563.1:c.-33-1482G>C	XP_006724626.1:n.-33-1482G>C
XM_017029884.2:c.-33-1482G>C	XP_016885373.1:n.-33-1482G>C
XM_017029885.1:c.-33-1482G>C	XP_016885374.1:n.-33-1482G>C
XM_024452457.1:c.698-1G>C	XP_024308225.1:n.698-1G>C
XM_024452458.1:c.698-1G>C	XP_024308226.1:n.698-1G>C
XM_024452459.1:c.503-1G>C	XP_024308227.1:n.503-1G>C
XM_024452460.1:c.503-1G>C	XP_024308228.1:n.503-1G>C
XM_024452461.1:c.467-1G>C	XP_024308229.1:n.467-1G>C
XM_024452462.1:c.272-1G>C	XP_024308230.1:n.272-1G>C
XM_024452463.1:c.-33-1482G>C	XP_024308231.1:n.-33-1482G>C
XM_024452464.1:c.-33-1482G>C	XP_024308232.1:n.-33-1482G>C