Canonical Allele Identifier: CA2573629396

Gene: F13B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039433T>A , CM000663.2:g.197039433T>A	GRCh38
NC_000001.10:g.197008563T>A , CM000663.1:g.197008563T>A	GRCh37
NC_000001.9:g.195275186T>A	NCBI36
NG_012065.1:g.32835A>T , LRG_550:g.32835A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367412.2:c.1953-22A>T MANE Select	ENSP00000356382.2:n.1953-22A>T
ENST00000649282.1:c.708-22A>T	ENSP00000497116.1:n.708-22A>T
ENST00000367412.1:c.1953-22A>T	ENSP00000356382.1:n.1953-22A>T
NM_001994.2:c.1953-22A>T , LRG_550t1:c.1953-22A>T	NP_001985.2:n.1953-22A>T
XM_011509283.2:c.*866A>T	XP_011507585.1:n.*866A>T
XM_011509284.2:c.*866A>T	XP_011507586.1:n.*866A>T
XM_011509286.2:c.*866A>T	XP_011507588.1:n.*866A>T
NM_001994.3:c.1953-22A>T MANE Select	NP_001985.2:n.1953-22A>T