Canonical Allele Identifier: CA343993314
Gene: F13B HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000367412.2:c.1957C>G MANE Select ENSP00000356382.2:p.Leu653Val
ENST00000649282.1:c.712C>G ENSP00000497116.1:p.Leu238Val
ENST00000367412.1:c.1957C>G ENSP00000356382.1:p.Leu653Val
NM_001994.2:c.1957C>G , LRG_550t1:c.1957C>G NP_001985.2:p.Leu653Val
XM_011509283.2:c.*892C>G XP_011507585.1:n.*892C>G
XM_011509284.2:c.*892C>G XP_011507586.1:n.*892C>G
XM_011509286.2:c.*892C>G XP_011507588.1:n.*892C>G
NM_001994.3:c.1957C>G MANE Select NP_001985.2:p.Leu653Val