Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551806C>A , CM000664.2:g.85551806C>A	GRCh38
NC_000002.11:g.85778929C>A , CM000664.1:g.85778929C>A	GRCh37
NC_000002.10:g.85632440C>A	NCBI36
NG_011811.2:g.14729G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6087+6G>T
ENST00000482662.2:n.4494+6G>T
ENST00000685865.1:n.2452G>T
ENST00000687250.1:n.2146+6G>T
ENST00000687995.1:n.1961+6G>T
ENST00000688205.1:c.*1202+6G>T	ENSP00000509673.1:n.*1202+6G>T
ENST00000688788.1:n.1848+6G>T
ENST00000689276.1:c.1540+6G>T	ENSP00000510012.1:n.1540+6G>T
ENST00000689576.1:c.*228+6G>T	ENSP00000508712.1:n.*228+6G>T
ENST00000690108.1:c.*1265+6G>T	ENSP00000510617.1:n.*1265+6G>T
ENST00000690468.1:c.*161+6G>T	ENSP00000509078.1:n.*161+6G>T
ENST00000690595.1:c.934+6G>T	ENSP00000508979.1:n.934+6G>T
ENST00000691348.1:c.*161+6G>T	ENSP00000509369.1:n.*161+6G>T
ENST00000691410.1:c.*1186+6G>T	ENSP00000508479.1:n.*1186+6G>T
ENST00000693287.1:c.925+6G>T	ENSP00000510264.1:n.925+6G>T
ENST00000693681.1:c.922+6G>T	ENSP00000510789.1:n.922+6G>T
ENST00000233838.9:c.1609+6G>T MANE Select	ENSP00000233838.3:n.1609+6G>T
ENST00000233838.8:c.1609+6G>T	ENSP00000233838.3:n.1609+6G>T
ENST00000430215.7:c.1438+6G>T	ENSP00000408045.3:n.1438+6G>T
ENST00000465637.5:n.179-3802G>T
NM_000821.5:c.1609+6G>T	NP_000812.2:n.1609+6G>T
NM_000821.6:c.1609+6G>T	NP_000812.2:n.1609+6G>T
NM_001142269.2:c.1438+6G>T	NP_001135741.1:n.1438+6G>T
NM_001142269.3:c.1438+6G>T	NP_001135741.1:n.1438+6G>T
XM_005264259.3:c.1609+6G>T	XP_005264316.1:n.1609+6G>T
XM_011532764.1:c.787+6G>T	XP_011531066.1:n.787+6G>T
XM_011532765.1:c.787+6G>T	XP_011531067.1:n.787+6G>T
XR_939677.1:n.1522+6G>T
XM_005264259.5:c.1609+6G>T	XP_005264316.1:n.1609+6G>T
XM_011532764.3:c.787+6G>T	XP_011531066.1:n.787+6G>T
XM_011532765.3:c.787+6G>T	XP_011531067.1:n.787+6G>T
XM_017003803.2:c.1438+6G>T	XP_016859292.1:n.1438+6G>T
XR_001738703.2:n.1522+6G>T
NM_000821.7:c.1609+6G>T MANE Select	NP_000812.2:n.1609+6G>T
NM_001142269.4:c.1438+6G>T	NP_001135741.1:n.1438+6G>T