Canonical Allele Identifier: CA422666663
Gene: F13B HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.197008529A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039399A>G , CM000663.2:g.197039399A>G GRCh38
NC_000001.10:g.197008529A>G , CM000663.1:g.197008529A>G GRCh37
NC_000001.9:g.195275152A>G NCBI36
NG_012065.1:g.32869T>C , LRG_550:g.32869T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.1965T>C MANE Select ENSP00000356382.2:p.Tyr655=
ENST00000649282.1:c.720T>C ENSP00000497116.1:p.Tyr240=
ENST00000367412.1:c.1965T>C ENSP00000356382.1:p.Tyr655=
NM_001994.2:c.1965T>C , LRG_550t1:c.1965T>C NP_001985.2:p.Tyr655=
XM_011509283.2:c.*900T>C XP_011507585.1:n.*900T>C
XM_011509284.2:c.*900T>C XP_011507586.1:n.*900T>C
XM_011509286.2:c.*900T>C XP_011507588.1:n.*900T>C
NM_001994.3:c.1965T>C MANE Select NP_001985.2:p.Tyr655=