Canonical Allele Identifier: CA5967013

Gene: F2

Linked Data

• dbSNP Id: rs750331579
• ExAC: 11:46747425 T / C
• gnomAD v2: 11-46747425-T-C
• gnomAD v4: 11-46725875-T-C
• MyVariant Identifiers: chr11:g.46747425T>C (hg19) ; chr11:g.46725875T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725875T>C , CM000673.2:g.46725875T>C	GRCh38
NC_000011.9:g.46747425T>C , CM000673.1:g.46747425T>C	GRCh37
NC_000011.8:g.46704001T>C	NCBI36
NG_008953.1:g.11683T>C , LRG_551:g.11683T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.576T>C MANE Select	ENSP00000308541.5:p.Thr192=
ENST00000311907.9:c.576T>C	ENSP00000308541.5:p.Thr192=
ENST00000442468.1:c.546T>C	ENSP00000387413.1:p.Thr182=
ENST00000490274.1:n.356T>C
ENST00000530231.5:c.576T>C	ENSP00000433907.1:p.Thr192=
NM_000506.3:c.576T>C	NP_000497.1:p.Thr192=
NM_000506.4:c.576T>C , LRG_551t1:c.576T>C	NP_000497.1:p.Thr192=
NM_001311257.1:c.528T>C	NP_001298186.1:p.Thr176=
XR_428840.2:n.620T>C
XR_428840.4:n.611T>C
NM_000506.5:c.576T>C MANE Select	NP_000497.1:p.Thr192=
NM_001311257.2:c.528T>C	NP_001298186.1:p.Thr176=