Canonical Allele Identifier: CA16042860
Gene:

Identifiers and link-outs to other resources

ClinVar Variation Id: 373724
ClinVar RCV Id: RCV000414731
dbSNP Id: rs1057518572

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64806369C>T , CM000673.2:g.64806369C>T GRCh38
NC_000011.9:g.64573841C>T , CM000673.1:g.64573841C>T GRCh37
NC_000011.8:g.64330417C>T NCBI36
NG_008929.1:g.9926G>A , LRG_509:g.9926G>A
NG_033040.1:g.1873G>A

Transcript Alleles

HGVS Amino-acid change
NM_000244.3:c.928-1G>A , LRG_509t1:c.928-1G>A NP_000235.2:p.=
NM_130799.2:c.913-1G>A , LRG_509t2:c.913-1G>A NP_570711.1:p.=
NM_130800.2:c.928-1G>A VV NP_570712.1:p.=
NM_130801.2:c.928-1G>A VV NP_570713.1:p.=
NM_130802.2:c.928-1G>A VV NP_570714.1:p.=
NM_130803.2:c.928-1G>A VV NP_570715.1:p.=
NM_130804.2:c.928-1G>A VV NP_570716.1:p.=
XM_005274001.3:c.913-1G>A XP_005274058.1:p.=
XM_011545040.1:c.913-1G>A XP_011543342.1:p.=
XM_011545041.1:c.913-1G>A XP_011543343.1:p.=
XM_011545042.1:c.913-1G>A XP_011543344.1:p.=
XM_005274001.4:c.913-1G>A XP_005274058.1:p.=
XM_011545041.2:c.913-1G>A XP_011543343.1:p.=
XM_011545042.3:c.913-1G>A XP_011543344.1:p.=
XM_017017765.1:c.928-1G>A XP_016873254.1:p.=
XM_017017766.1:c.928-1G>A XP_016873255.1:p.=
XM_017017767.2:c.928-1G>A XP_016873256.1:p.=
XM_017017768.1:c.928-1G>A XP_016873257.1:p.=
XM_017017769.1:c.913-1G>A XP_016873258.1:p.=
XM_017017770.2:c.913-1G>A XP_016873259.1:p.=
ENST00000312049.10:c.913-1G>A ENSP00000308975.6:p.=
ENST00000315422.8:c.913-1G>A ENSP00000323747.4:p.=
ENST00000337652.5:c.928-1G>A ENSP00000337088.1:p.=
ENST00000377313.5:c.928-1G>A ENSP00000366530.1:p.=
ENST00000377316.6:c.913-1G>A ENSP00000366533.1:p.=
ENST00000377321.5:c.808-1G>A ENSP00000366538.1:p.=
ENST00000377326.7:c.913-1G>A ENSP00000366543.3:p.=
ENST00000394374.6:c.928-1G>A ENSP00000377899.2:p.=
ENST00000394376.5:c.928-1G>A ENSP00000377901.1:p.=
ENST00000440873.5:c.913-1G>A ENSP00000413944.1:p.=