Canonical Allele Identifier: CA1308189

Gene: F13B

Linked Data

• dbSNP Id: rs757474775
• ExAC: 1:197008572 A / G
• gnomAD v2: 1-197008572-A-G
• gnomAD v4: 1-197039442-A-G
• MyVariant Identifiers: chr1:g.197008572A>G (hg19) ; chr1:g.197039442A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039442A>G , CM000663.2:g.197039442A>G	GRCh38
NC_000001.10:g.197008572A>G , CM000663.1:g.197008572A>G	GRCh37
NC_000001.9:g.195275195A>G	NCBI36
NG_012065.1:g.32826T>C , LRG_550:g.32826T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367412.2:c.1953-31T>C MANE Select	ENSP00000356382.2:n.1953-31T>C
ENST00000649282.1:c.708-31T>C	ENSP00000497116.1:n.708-31T>C
ENST00000367412.1:c.1953-31T>C	ENSP00000356382.1:n.1953-31T>C
NM_001994.2:c.1953-31T>C , LRG_550t1:c.1953-31T>C	NP_001985.2:n.1953-31T>C
XM_011509283.2:c.*857T>C	XP_011507585.1:n.*857T>C
XM_011509284.2:c.*857T>C	XP_011507586.1:n.*857T>C
XM_011509286.2:c.*857T>C	XP_011507588.1:n.*857T>C
NM_001994.3:c.1953-31T>C MANE Select	NP_001985.2:n.1953-31T>C