Canonical Allele Identifier: CA2014393537

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7089608C= , CM000674.2:g.7089608C= GRCh38
NC_000012.11:g.7242204C= , CM000674.1:g.7242204C= GRCh37
NC_000012.10:g.7133345C= NCBI36
NG_062465.1:g.8000G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647956.2:c.550G= (C1R) MANE Select ENSP00000497341.1:p.Glu184=
ENST00000648162.1:n.522G= (C1R)
ENST00000535233.6:c.448G= (C1R) ENSP00000438636.3:p.Glu150=
ENST00000536053.6:c.592G= (C1R) ENSP00000444271.3:p.Glu198=
ENST00000539803.5:c.1017G= (C1RL)
ENST00000540394.5:n.1309G= (C1R)
ENST00000540610.5:c.235G= (C1R) ENSP00000439223.1:p.Glu79=
ENST00000542285.5:c.550G= (C1R) ENSP00000438615.2:p.Glu184=
ENST00000543362.5:c.*202G= (C1R) ENSP00000446356.1:n.*202G=
NM_001733.4:c.550G= (C1R) NP_001724.3:p.Glu184=
NM_001354346.1:c.592G= (C1R) NP_001341275.1:p.Glu198=
NM_001733.6:c.550G= (C1R) NP_001724.4:p.Glu184=
NM_001733.7:c.550G= (C1R) MANE Select NP_001724.4:p.Glu184=
NM_001354346.2:c.592G= (C1R) NP_001341275.1:p.Glu198=