Canonical Allele Identifier: CA729740614
Gene: F13B HGNC NCBI

Linked Data

dbSNP Id: rs1417807666
gnomAD v3: 1-197039184-A-G
gnomAD v4: 1-197039184-A-G
MyVariant Identifiers: chr1:g.197008314A>G (hg19) chr1:g.197039184A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039184A>G , CM000663.2:g.197039184A>G GRCh38
NC_000001.10:g.197008314A>G , CM000663.1:g.197008314A>G GRCh37
NC_000001.9:g.195274937A>G NCBI36
NG_012065.1:g.33084T>C , LRG_550:g.33084T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.*194T>C MANE Select ENSP00000356382.2:n.*194T>C
ENST00000649282.1:c.935T>C ENSP00000497116.1:n.935T>C
XM_011509283.2:c.*1115T>C XP_011507585.1:n.*1115T>C
XM_011509284.2:c.*1115T>C XP_011507586.1:n.*1115T>C
XM_011509286.2:c.*1115T>C XP_011507588.1:n.*1115T>C
NM_001994.3:c.*194T>C MANE Select NP_001985.2:n.*194T>C
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