Canonical Allele Identifier: CA35869284

Gene: F13B

Linked Data

• dbSNP Id: rs575191063
• gnomAD v2: 1-197008315-A-G
• gnomAD v3: 1-197039185-A-G
• gnomAD v4: 1-197039185-A-G
• MyVariant Identifiers: chr1:g.197008315A>G (hg19) ; chr1:g.197039185A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039185A>G , CM000663.2:g.197039185A>G	GRCh38
NC_000001.10:g.197008315A>G , CM000663.1:g.197008315A>G	GRCh37
NC_000001.9:g.195274938A>G	NCBI36
NG_012065.1:g.33083T>C , LRG_550:g.33083T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367412.2:c.*193T>C MANE Select	ENSP00000356382.2:n.*193T>C
ENST00000649282.1:c.934T>C	ENSP00000497116.1:n.934T>C
XM_011509283.2:c.*1114T>C	XP_011507585.1:n.*1114T>C
XM_011509284.2:c.*1114T>C	XP_011507586.1:n.*1114T>C
XM_011509286.2:c.*1114T>C	XP_011507588.1:n.*1114T>C
NM_001994.3:c.*193T>C MANE Select	NP_001985.2:n.*193T>C