Canonical Allele Identifier: CA422666664
Gene: F13B HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.197008532A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039402A>T , CM000663.2:g.197039402A>T GRCh38
NC_000001.10:g.197008532A>T , CM000663.1:g.197008532A>T GRCh37
NC_000001.9:g.195275155A>T NCBI36
NG_012065.1:g.32866T>A , LRG_550:g.32866T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.1962T>A MANE Select ENSP00000356382.2:p.Ser654=
ENST00000649282.1:c.717T>A ENSP00000497116.1:p.Ser239=
ENST00000367412.1:c.1962T>A ENSP00000356382.1:p.Ser654=
NM_001994.2:c.1962T>A , LRG_550t1:c.1962T>A NP_001985.2:p.Ser654=
XM_011509283.2:c.*897T>A XP_011507585.1:n.*897T>A
XM_011509284.2:c.*897T>A XP_011507586.1:n.*897T>A
XM_011509286.2:c.*897T>A XP_011507588.1:n.*897T>A
NM_001994.3:c.1962T>A MANE Select NP_001985.2:p.Ser654=