Canonical Allele Identifier: CA1217904223
Gene: F13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039407G= , CM000663.2:g.197039407G= GRCh38
NC_000001.10:g.197008537G= , CM000663.1:g.197008537G= GRCh37
NC_000001.9:g.195275160G= NCBI36
NG_012065.1:g.32861C= , LRG_550:g.32861C=

Transcript Alleles

HGVS Amino-acid change
ENST00000367412.2:c.1957C= MANE Select ENSP00000356382.2:p.Leu653=
ENST00000649282.1:c.712C= ENSP00000497116.1:p.Leu238=
ENST00000367412.1:c.1957C= ENSP00000356382.1:p.Leu653=
NM_001994.2:c.1957C= , LRG_550t1:c.1957C= NP_001985.2:p.Leu653=
XM_011509283.2:c.*892C= XP_011507585.1:n.*892C=
XM_011509284.2:c.*892C= XP_011507586.1:n.*892C=
XM_011509286.2:c.*892C= XP_011507588.1:n.*892C=
NM_001994.3:c.1957C= MANE Select NP_001985.2:p.Leu653=