Canonical Allele Identifier: CA729740604
Gene: F13B HGNC NCBI

Linked Data

dbSNP Id: rs1157757935
gnomAD v3: 1-197039180-C-T
gnomAD v4: 1-197039180-C-T
MyVariant Identifiers: chr1:g.197008310C>T (hg19) chr1:g.197039180C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039180C>T , CM000663.2:g.197039180C>T GRCh38
NC_000001.10:g.197008310C>T , CM000663.1:g.197008310C>T GRCh37
NC_000001.9:g.195274933C>T NCBI36
NG_012065.1:g.33088G>A , LRG_550:g.33088G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.*198G>A MANE Select ENSP00000356382.2:n.*198G>A
ENST00000649282.1:c.939G>A ENSP00000497116.1:n.939G>A
XM_011509283.2:c.*1119G>A XP_011507585.1:n.*1119G>A
XM_011509284.2:c.*1119G>A XP_011507586.1:n.*1119G>A
XM_011509286.2:c.*1119G>A XP_011507588.1:n.*1119G>A
NM_001994.3:c.*198G>A MANE Select NP_001985.2:n.*198G>A
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