Canonical Allele Identifier: CA1308183

Gene: F13B

Linked Data

• dbSNP Id: rs765829701
• ExAC: 1:197008537 G / A
• gnomAD v2: 1-197008537-G-A
• gnomAD v4: 1-197039407-G-A
• MyVariant Identifiers: chr1:g.197008537G>A (hg19) ; chr1:g.197039407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197039407G>A , CM000663.2:g.197039407G>A	GRCh38
NC_000001.10:g.197008537G>A , CM000663.1:g.197008537G>A	GRCh37
NC_000001.9:g.195275160G>A	NCBI36
NG_012065.1:g.32861C>T , LRG_550:g.32861C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1957C>T MANE Select	ENSP00000356382.2:p.Leu653=
ENST00000649282.1:c.712C>T	ENSP00000497116.1:p.Leu238=
ENST00000367412.1:c.1957C>T	ENSP00000356382.1:p.Leu653=
NM_001994.2:c.1957C>T , LRG_550t1:c.1957C>T	NP_001985.2:p.Leu653=
XM_011509283.2:c.*892C>T	XP_011507585.1:n.*892C>T
XM_011509284.2:c.*892C>T	XP_011507586.1:n.*892C>T
XM_011509286.2:c.*892C>T	XP_011507588.1:n.*892C>T
NM_001994.3:c.1957C>T MANE Select	NP_001985.2:p.Leu653=