Canonical Allele Identifier: CA344000896

Gene: F13B

Linked Data

• dbSNP Id: rs1331312940
• gnomAD v4: 1-197055724-C-T
• MyVariant Identifiers: chr1:g.197024854C>T (hg19) ; chr1:g.197055724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197055724C>T , CM000663.2:g.197055724C>T	GRCh38
NC_000001.10:g.197024854C>T , CM000663.1:g.197024854C>T	GRCh37
NC_000001.9:g.195291477C>T	NCBI36
NG_012065.1:g.16544G>A , LRG_550:g.16544G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1345G>A MANE Select	ENSP00000356382.2:p.Val449Ile
ENST00000649282.1:c.100G>A	ENSP00000497116.1:p.Val34Ile
ENST00000367412.1:c.1345G>A	ENSP00000356382.1:p.Val449Ile
NM_001994.2:c.1345G>A , LRG_550t1:c.1345G>A	NP_001985.2:p.Val449Ile
XM_011509283.1:c.1345G>A	XP_011507585.1:p.Val449Ile
XM_011509284.1:c.1342G>A	XP_011507586.1:p.Val448Ile
XM_011509285.1:c.1249G>A	XP_011507587.1:p.Val417Ile
XM_011509286.1:c.1201G>A	XP_011507588.1:p.Val401Ile
XM_011509283.2:c.1345G>A	XP_011507585.1:p.Val449Ile
XM_011509284.2:c.1342G>A	XP_011507586.1:p.Val448Ile
XM_011509286.2:c.1201G>A	XP_011507588.1:p.Val401Ile
NM_001994.3:c.1345G>A MANE Select	NP_001985.2:p.Val449Ile