Canonical Allele Identifier: CA1233948
Community Standard Title: NM_000130.5(F5):c.3221A>G (p.Asn1074Ser)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541869T>C , CM000663.2:g.169541869T>C GRCh38
NC_000001.10:g.169511107T>C , CM000663.1:g.169511107T>C GRCh37
NC_000001.9:g.167777731T>C NCBI36
NG_011806.1:g.49663A>G , LRG_553:g.49663A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.3221A>G MANE Select NP_000121.2:p.Asn1074Ser
ENST00000367797.9:c.3221A>G MANE Select ENSP00000356771.3:p.Asn1074Ser
NM_000130.4:c.3221A>G , LRG_553t1:c.3221A>G NP_000121.2:p.Asn1074Ser
ENST00000367796.3:c.3236A>G ENSP00000356770.3:p.Asn1079Ser
ENST00000367797.7:c.3221A>G ENSP00000356771.3:p.Asn1074Ser
XM_017000660.2:c.2810A>G XP_016856149.1:p.Asn937Ser