Canonical Allele Identifier: CA343993323
Gene: F13B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039409G>T , CM000663.2:g.197039409G>T GRCh38
NC_000001.10:g.197008539G>T , CM000663.1:g.197008539G>T GRCh37
NC_000001.9:g.195275162G>T NCBI36
NG_012065.1:g.32859C>A , LRG_550:g.32859C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367412.2:c.1955C>A MANE Select ENSP00000356382.2:p.Thr652Asn
ENST00000649282.1:c.710C>A ENSP00000497116.1:p.Thr237Asn
ENST00000367412.1:c.1955C>A ENSP00000356382.1:p.Thr652Asn
NM_001994.2:c.1955C>A , LRG_550t1:c.1955C>A NP_001985.2:p.Thr652Asn
XM_011509283.2:c.*890C>A XP_011507585.1:n.*890C>A
XM_011509284.2:c.*890C>A XP_011507586.1:n.*890C>A
XM_011509286.2:c.*890C>A XP_011507588.1:n.*890C>A
NM_001994.3:c.1955C>A MANE Select NP_001985.2:p.Thr652Asn