Canonical Allele Identifier: CA528277345

Gene: F13B

Linked Data

• dbSNP Id: rs568864070
• gnomAD v2: 1-197008576-A-T
• gnomAD v4: 1-197039446-A-T
• MyVariant Identifiers: chr1:g.197008576A>T (hg19) ; chr1:g.197039446A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039446A>T , CM000663.2:g.197039446A>T	GRCh38
NC_000001.10:g.197008576A>T , CM000663.1:g.197008576A>T	GRCh37
NC_000001.9:g.195275199A>T	NCBI36
NG_012065.1:g.32822T>A , LRG_550:g.32822T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367412.2:c.1953-35T>A MANE Select	ENSP00000356382.2:n.1953-35T>A
ENST00000649282.1:c.708-35T>A	ENSP00000497116.1:n.708-35T>A
ENST00000367412.1:c.1953-35T>A	ENSP00000356382.1:n.1953-35T>A
NM_001994.2:c.1953-35T>A , LRG_550t1:c.1953-35T>A	NP_001985.2:n.1953-35T>A
XM_011509283.2:c.*853T>A	XP_011507585.1:n.*853T>A
XM_011509284.2:c.*853T>A	XP_011507586.1:n.*853T>A
XM_011509286.2:c.*853T>A	XP_011507588.1:n.*853T>A
NM_001994.3:c.1953-35T>A MANE Select	NP_001985.2:n.1953-35T>A