Canonical Allele Identifier: CA009004
Gene:

Identifiers and link-outs to other resources

ClinVar Variation Id: 16705
ClinVar RCV Id: RCV000018185
dbSNP Id: rs104894265

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64805758G>T , CM000673.2:g.64805758G>T GRCh38
NC_000011.9:g.64573230G>T , CM000673.1:g.64573230G>T GRCh37
NC_000011.8:g.64329806G>T NCBI36
NG_008929.1:g.10537C>A , LRG_509:g.10537C>A
NG_033040.1:g.2484C>A

Transcript Alleles

HGVS Amino-acid change
NM_000244.3:c.1077C>A , LRG_509t1:c.1077C>A NP_000235.2:p.Cys359Ter
NM_130799.2:c.1062C>A , LRG_509t2:c.1062C>A NP_570711.1:p.Cys354Ter
NM_130800.2:c.1077C>A VV NP_570712.1:p.Cys359Ter
NM_130801.2:c.1077C>A VV NP_570713.1:p.Cys359Ter
NM_130802.2:c.1077C>A VV NP_570714.1:p.Cys359Ter
NM_130803.2:c.1077C>A VV NP_570715.1:p.Cys359Ter
NM_130804.2:c.1077C>A VV NP_570716.1:p.Cys359Ter
XM_005274001.3:c.1062C>A XP_005274058.1:p.Cys354Ter
XM_011545040.1:c.1188C>A XP_011543342.1:p.Cys396Ter
XM_011545041.1:c.1188C>A XP_011543343.1:p.Cys396Ter
XM_011545042.1:c.1188C>A XP_011543344.1:p.Cys396Ter
XM_005274001.4:c.1062C>A XP_005274058.1:p.Cys354Ter
XM_011545041.2:c.1188C>A XP_011543343.1:p.Cys396Ter
XM_011545042.3:c.1188C>A XP_011543344.1:p.Cys396Ter
XM_017017765.1:c.1203C>A XP_016873254.1:p.Cys401Ter
XM_017017766.1:c.1203C>A XP_016873255.1:p.Cys401Ter
XM_017017767.2:c.1203C>A XP_016873256.1:p.Cys401Ter
XM_017017768.1:c.1203C>A XP_016873257.1:p.Cys401Ter
XM_017017769.1:c.1062C>A XP_016873258.1:p.Cys354Ter
XM_017017770.2:c.1062C>A XP_016873259.1:p.Cys354Ter
ENST00000312049.10:c.1062C>A ENSP00000308975.6:p.Cys354Ter
ENST00000315422.8:c.1062C>A ENSP00000323747.4:p.Cys354Ter
ENST00000337652.5:c.1077C>A ENSP00000337088.1:p.Cys359Ter
ENST00000377313.5:c.1077C>A ENSP00000366530.1:p.Cys359Ter
ENST00000377316.6:c.1062C>A ENSP00000366533.1:p.Cys354Ter
ENST00000377321.5:c.957C>A ENSP00000366538.1:p.Cys319Ter
ENST00000377326.7:c.1062C>A ENSP00000366543.3:p.Cys354Ter
ENST00000394374.6:c.1077C>A ENSP00000377899.2:p.Cys359Ter
ENST00000394376.5:c.1077C>A ENSP00000377901.1:p.Cys359Ter
ENST00000478548.1:n.611C>A
ENST00000487019.1:n.118C>A