Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224590T>C , CM000679.2:g.7224590T>C	GRCh38
NC_000017.10:g.7127909T>C , CM000679.1:g.7127909T>C	GRCh37
NC_000017.9:g.7068633T>C	NCBI36
NG_007975.1:g.9757T>C
NG_008391.2:g.461A>G
NG_033038.1:g.14955A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1678+38T>C MANE Select	ENSP00000349297.5:n.1678+38T>C
ENST00000322910.9:c.*1633+38T>C	ENSP00000325395.5:n.*1633+38T>C
ENST00000350303.9:c.1612+38T>C	ENSP00000344152.5:n.1612+38T>C
ENST00000356839.9:c.1678+38T>C	ENSP00000349297.5:n.1678+38T>C
ENST00000542255.6:c.536+38T>C
ENST00000543245.6:c.1747+38T>C	ENSP00000438689.2:n.1747+38T>C
ENST00000578319.5:n.259+38T>C
ENST00000578711.1:n.1086T>C
ENST00000578809.5:n.250+38T>C
ENST00000579391.1:n.320T>C
ENST00000579425.5:n.794+38T>C
ENST00000579546.1:c.413+38T>C
ENST00000582450.1:n.224T>C
ENST00000583074.5:n.299+38T>C
ENST00000583848.5:c.64+38T>C	ENSP00000466487.1:n.64+38T>C
ENST00000583850.5:n.449+38T>C
ENST00000583858.5:c.609+38T>C
ENST00000585203.6:n.869+38T>C
NM_000018.3:c.1678+38T>C	NP_000009.1:n.1678+38T>C
NM_001033859.2:c.1612+38T>C	NP_001029031.1:n.1612+38T>C
NM_001270447.1:c.1747+38T>C	NP_001257376.1:n.1747+38T>C
NM_001270448.1:c.1450+38T>C	NP_001257377.1:n.1450+38T>C
XM_006721516.2:c.1678+38T>C	XP_006721579.2:n.1678+38T>C
XM_011523829.1:c.1576+38T>C	XP_011522131.1:n.1576+38T>C
XM_011523830.1:c.1576+38T>C	XP_011522132.1:n.1576+38T>C
XR_934021.1:n.1781+38T>C
XR_934022.1:n.1687+38T>C
XR_934023.1:n.1687+38T>C
XM_006721516.3:c.1678+38T>C	XP_006721579.2:n.1678+38T>C
XM_011523829.2:c.1576+38T>C	XP_011522131.1:n.1576+38T>C
XM_011523830.2:c.1576+38T>C	XP_011522132.1:n.1576+38T>C
XM_024450741.1:c.1666+38T>C	XP_024306509.1:n.1666+38T>C
XR_934021.2:n.1733+38T>C
XR_934022.2:n.1639+38T>C
XR_934023.2:n.1639+38T>C
NM_000018.4:c.1678+38T>C MANE Select	NP_000009.1:n.1678+38T>C
NM_001033859.3:c.1612+38T>C	NP_001029031.1:n.1612+38T>C
NM_001270447.2:c.1747+38T>C	NP_001257376.1:n.1747+38T>C
NM_001270448.2:c.1450+38T>C	NP_001257377.1:n.1450+38T>C