Canonical Allele Identifier: CA2649657788

Gene: F13B

Linked Data

• gnomAD v4: 1-197039269-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039269A>G , CM000663.2:g.197039269A>G	GRCh38
NC_000001.10:g.197008399A>G , CM000663.1:g.197008399A>G	GRCh37
NC_000001.9:g.195275022A>G	NCBI36
NG_012065.1:g.32999T>C , LRG_550:g.32999T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367412.2:c.*109T>C MANE Select	ENSP00000356382.2:n.*109T>C
ENST00000649282.1:c.850T>C	ENSP00000497116.1:n.850T>C
ENST00000367412.1:c.*109T>C	ENSP00000356382.1:n.*109T>C
NM_001994.2:c.*109T>C , LRG_550t1:c.*109T>C	NP_001985.2:n.*109T>C
XM_011509283.2:c.*1030T>C	XP_011507585.1:n.*1030T>C
XM_011509284.2:c.*1030T>C	XP_011507586.1:n.*1030T>C
XM_011509286.2:c.*1030T>C	XP_011507588.1:n.*1030T>C
NM_001994.3:c.*109T>C MANE Select	NP_001985.2:n.*109T>C