Canonical Allele Identifier: CA256471617

Linked Data

ClinVar Variation Id: 12065
ClinVar RCV Id: RCV000012845
dbSNP Id: rs121964945

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113129595G>C , CM000675.2:g.113129595G>C GRCh38
NC_000013.10:g.113783909G>C , CM000675.1:g.113783909G>C GRCh37
NC_000013.9:g.112831910G>C NCBI36
NG_009258.1:g.11797G>C , LRG_548:g.11797G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375559.8:c.214G>C (F10) MANE Select ENSP00000364709.3:p.Glu72Gln
ENST00000375551.7:c.214G>C (F10) ENSP00000364701.3:p.Glu72Gln
ENST00000375559.7:c.214G>C (F10) ENSP00000364709.3:p.Glu72Gln
ENST00000409306.5:c.214G>C (F10) ENSP00000387092.1:p.Glu72Gln
ENST00000410083.6:c.214G>C (F10) ENSP00000386320.2:p.Glu72Gln
ENST00000477269.5:n.251G>C (F10)
ENST00000483537.1:n.234G>C (F10)
NM_000504.3:c.214G>C , LRG_548t1:c.214G>C (F10) NP_000495.1:p.Glu72Gln
NM_001312674.1:c.214G>C (F10) NP_001299603.1:p.Glu72Gln
NM_001312675.1:c.214G>C (F10) NP_001299604.1:p.Glu72Gln
NR_126424.1:n.41+411C>G (F10-AS1)
NM_000504.4:c.214G>C (F10) MANE Select NP_000495.1:p.Glu72Gln
NM_001312674.2:c.214G>C (F10) NP_001299603.1:p.Glu72Gln
NM_001312675.2:c.214G>C (F10) NP_001299604.1:p.Glu72Gln