Canonical Allele Identifier: CA10608680
Gene: F13B HGNC NCBI

Linked Data

ClinVar Variation Id: 294565
ClinVar RCV Id: RCV000295928
dbSNP Id: rs180977741
gnomAD v2: 1-197008346-G-T
gnomAD v3: 1-197039216-G-T
gnomAD v4: 1-197039216-G-T
MyVariant Identifiers: chr1:g.197008346G>T (hg19) chr1:g.197039216G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039216G>T , CM000663.2:g.197039216G>T GRCh38
NC_000001.10:g.197008346G>T , CM000663.1:g.197008346G>T GRCh37
NC_000001.9:g.195274969G>T NCBI36
NG_012065.1:g.33052C>A , LRG_550:g.33052C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.*162C>A MANE Select ENSP00000356382.2:n.*162C>A
ENST00000649282.1:c.903C>A ENSP00000497116.1:n.903C>A
ENST00000367412.1:c.*162C>A ENSP00000356382.1:n.*162C>A
NM_001994.2:c.*162C>A , LRG_550t1:c.*162C>A NP_001985.2:n.*162C>A
XM_011509283.2:c.*1083C>A XP_011507585.1:n.*1083C>A
XM_011509284.2:c.*1083C>A XP_011507586.1:n.*1083C>A
XM_011509286.2:c.*1083C>A XP_011507588.1:n.*1083C>A
NM_001994.3:c.*162C>A MANE Select NP_001985.2:n.*162C>A
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