Canonical Allele Identifier: CA1217904222
Gene: F13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039405C= , CM000663.2:g.197039405C= GRCh38
NC_000001.10:g.197008535C= , CM000663.1:g.197008535C= GRCh37
NC_000001.9:g.195275158C= NCBI36
NG_012065.1:g.32863G= , LRG_550:g.32863G=

Transcript Alleles

HGVS Amino-acid change
ENST00000367412.2:c.1959G= MANE Select ENSP00000356382.2:p.Leu653=
ENST00000649282.1:c.714G= ENSP00000497116.1:p.Leu238=
ENST00000367412.1:c.1959G= ENSP00000356382.1:p.Leu653=
NM_001994.2:c.1959G= , LRG_550t1:c.1959G= NP_001985.2:p.Leu653=
XM_011509283.2:c.*894G= XP_011507585.1:n.*894G=
XM_011509284.2:c.*894G= XP_011507586.1:n.*894G=
XM_011509286.2:c.*894G= XP_011507588.1:n.*894G=
NM_001994.3:c.1959G= MANE Select NP_001985.2:p.Leu653=