Canonical Allele Identifier: CA1233818
Community Standard Title: NM_000130.5(F5):c.3821T>C (p.Met1274Thr)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541269A>G , CM000663.2:g.169541269A>G GRCh38
NC_000001.10:g.169510507A>G , CM000663.1:g.169510507A>G GRCh37
NC_000001.9:g.167777131A>G NCBI36
NG_011806.1:g.50263T>C , LRG_553:g.50263T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.3821T>C MANE Select NP_000121.2:p.Met1274Thr
ENST00000367797.9:c.3821T>C MANE Select ENSP00000356771.3:p.Met1274Thr
NM_000130.4:c.3821T>C , LRG_553t1:c.3821T>C NP_000121.2:p.Met1274Thr
ENST00000367796.3:c.3836T>C ENSP00000356770.3:p.Met1279Thr
ENST00000367797.7:c.3821T>C ENSP00000356771.3:p.Met1274Thr
XM_017000660.2:c.3410T>C XP_016856149.1:p.Met1137Thr