Canonical Allele Identifier: CA1308351

Gene: F13B

Linked Data

• dbSNP Id: rs112043475
• ExAC: 1:197024858 T / C
• gnomAD v2: 1-197024858-T-C
• gnomAD v3: 1-197055728-T-C
• gnomAD v4: 1-197055728-T-C
• MyVariant Identifiers: chr1:g.197024858T>C (hg19) ; chr1:g.197055728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197055728T>C , CM000663.2:g.197055728T>C	GRCh38
NC_000001.10:g.197024858T>C , CM000663.1:g.197024858T>C	GRCh37
NC_000001.9:g.195291481T>C	NCBI36
NG_012065.1:g.16540A>G , LRG_550:g.16540A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1341A>G MANE Select	ENSP00000356382.2:p.Pro447=
ENST00000649282.1:c.96A>G	ENSP00000497116.1:p.Pro32=
ENST00000367412.1:c.1341A>G	ENSP00000356382.1:p.Pro447=
NM_001994.2:c.1341A>G , LRG_550t1:c.1341A>G	NP_001985.2:p.Pro447=
XM_011509283.1:c.1341A>G	XP_011507585.1:p.Pro447=
XM_011509284.1:c.1338A>G	XP_011507586.1:p.Pro446=
XM_011509285.1:c.1245A>G	XP_011507587.1:p.Pro415=
XM_011509286.1:c.1197A>G	XP_011507588.1:p.Pro399=
XM_011509283.2:c.1341A>G	XP_011507585.1:p.Pro447=
XM_011509284.2:c.1338A>G	XP_011507586.1:p.Pro446=
XM_011509286.2:c.1197A>G	XP_011507588.1:p.Pro399=
NM_001994.3:c.1341A>G MANE Select	NP_001985.2:p.Pro447=