Canonical Allele Identifier: CA414445985
Community Standard Title: NM_000133.4(F9):c.1114C>G (p.Leu372Val)
Gene: F9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139561799C>G , CM000685.2:g.139561799C>G GRCh38
NC_000023.10:g.138643958C>G , CM000685.1:g.138643958C>G GRCh37
NC_000023.9:g.138471624C>G NCBI36
NG_007994.1:g.36064C>G , LRG_556:g.36064C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000133.4:c.1114C>G MANE Select NP_000124.1:p.Leu372Val
ENST00000218099.7:c.1114C>G MANE Select ENSP00000218099.2:p.Leu372Val
NM_000133.3:c.1114C>G , LRG_556t1:c.1114C>G NP_000124.1:p.Leu372Val
NM_001313913.1:c.1000C>G NP_001300842.1:p.Leu334Val
NM_001313913.2:c.1000C>G NP_001300842.1:p.Leu334Val
ENST00000218099.6:c.1114C>G ENSP00000218099.2:p.Leu372Val
ENST00000394090.2:c.1000C>G ENSP00000377650.2:p.Leu334Val
ENST00000643157.1:n.1723+58C>G
XM_005262397.3:c.985C>G XP_005262454.1:p.Leu329Val
XM_005262397.4:c.985C>G XP_005262454.1:p.Leu329Val