Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224245T>C , CM000679.2:g.7224245T>C	GRCh38
NC_000017.10:g.7127564T>C , CM000679.1:g.7127564T>C	GRCh37
NC_000017.9:g.7068288T>C	NCBI36
NG_007975.1:g.9412T>C
NG_008391.2:g.806A>G
NG_033038.1:g.15300A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1532+2T>C MANE Select	ENSP00000349297.5:n.1532+2T>C
ENST00000322910.9:c.*1487+2T>C	ENSP00000325395.5:n.*1487+2T>C
ENST00000350303.9:c.1466+2T>C	ENSP00000344152.5:n.1466+2T>C
ENST00000356839.9:c.1532+2T>C	ENSP00000349297.5:n.1532+2T>C
ENST00000542255.6:c.390+2T>C
ENST00000543245.6:c.1601+2T>C	ENSP00000438689.2:n.1601+2T>C
ENST00000578319.5:n.27+2T>C
ENST00000578711.1:n.741T>C
ENST00000578809.5:n.29T>C
ENST00000579391.1:n.140+2T>C
ENST00000579425.5:n.648+2T>C
ENST00000579546.1:c.272-76T>C
ENST00000579894.5:n.319+2T>C
ENST00000583074.5:n.154-76T>C
ENST00000583850.5:n.307+2T>C
ENST00000583858.5:c.464-76T>C
ENST00000585203.6:n.723+2T>C
NM_000018.3:c.1532+2T>C	NP_000009.1:n.1532+2T>C
NM_001033859.2:c.1466+2T>C	NP_001029031.1:n.1466+2T>C
NM_001270447.1:c.1601+2T>C	NP_001257376.1:n.1601+2T>C
NM_001270448.1:c.1304+2T>C	NP_001257377.1:n.1304+2T>C
XM_006721516.2:c.1532+2T>C	XP_006721579.2:n.1532+2T>C
XM_011523829.1:c.1435-76T>C	XP_011522131.1:n.1435-76T>C
XM_011523830.1:c.1435-76T>C	XP_011522132.1:n.1435-76T>C
XR_934021.1:n.1639+2T>C
XR_934022.1:n.1542-76T>C
XR_934023.1:n.1542-76T>C
XM_006721516.3:c.1532+2T>C	XP_006721579.2:n.1532+2T>C
XM_011523829.2:c.1435-76T>C	XP_011522131.1:n.1435-76T>C
XM_011523830.2:c.1435-76T>C	XP_011522132.1:n.1435-76T>C
XM_024450741.1:c.1435-76T>C	XP_024306509.1:n.1435-76T>C
XR_934021.2:n.1591+2T>C
XR_934022.2:n.1494-76T>C
XR_934023.2:n.1494-76T>C
NM_000018.4:c.1532+2T>C MANE Select	NP_000009.1:n.1532+2T>C
NM_001033859.3:c.1466+2T>C	NP_001029031.1:n.1466+2T>C
NM_001270447.2:c.1601+2T>C	NP_001257376.1:n.1601+2T>C
NM_001270448.2:c.1304+2T>C	NP_001257377.1:n.1304+2T>C

Linked Data

Genomic Alleles

Transcript Alleles