Canonical Allele Identifier: CA213136
Gene: FBLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 5477
ClinVar RCV Id: RCV000005811 RCV001851678 RCV003447069
dbSNP Id: rs121434299
ExAC: 14:92403492 C / G
gnomAD v2: 14-92403492-C-G
gnomAD v3: 14-91937148-C-G
gnomAD v4: 14-91937148-C-G
MyVariant Identifiers: chr14:g.92403492C>G (hg19) chr14:g.91937148C>G (hg38)
PubMed: PMID:15269314 PMID:21576112
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91937148C>G , CM000676.2:g.91937148C>G GRCh38
NC_000014.8:g.92403492C>G , CM000676.1:g.92403492C>G GRCh37
NC_000014.7:g.91473245C>G NCBI36
NG_008254.1:g.15555G>C , LRG_364:g.15555G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000557088.6:c.*144G>C ENSP00000451002.1:n.*144G>C
ENST00000557570.2:c.10G>C ENSP00000450787.2:p.Val4Leu
ENST00000706676.1:c.352G>C ENSP00000516492.1:p.Val118Leu
ENST00000706677.1:c.178G>C ENSP00000516493.1:p.Val60Leu
ENST00000706679.1:c.10G>C ENSP00000516494.1:p.Val4Leu
ENST00000706680.1:c.*144G>C ENSP00000516495.1:n.*144G>C
ENST00000706681.1:c.*102G>C ENSP00000516496.1:n.*102G>C
ENST00000342058.9:c.178G>C MANE Select ENSP00000345008.4:p.Val60Leu
ENST00000267620.14:c.301G>C ENSP00000267620.10:p.Val101Leu
ENST00000342058.8:c.178G>C ENSP00000345008.4:p.Val60Leu
ENST00000554468.5:c.178G>C ENSP00000451486.1:p.Val60Leu
ENST00000556154.5:c.193G>C ENSP00000451982.1:p.Val65Leu
ENST00000557088.5:c.*144G>C ENSP00000451002.1:n.*144G>C
ENST00000557462.5:n.424G>C
NM_006329.3:c.178G>C , LRG_364t1:c.178G>C NP_006320.2:p.Val60Leu
XM_005267267.3:c.229G>C XP_005267324.1:p.Val77Leu
XM_011536356.1:c.229G>C XP_011534658.1:p.Val77Leu
XM_011536357.1:c.178G>C XP_011534659.1:p.Val60Leu
XM_011536358.1:c.10G>C XP_011534660.1:p.Val4Leu
XM_011536357.2:c.178G>C XP_011534659.1:p.Val60Leu
XM_011536358.2:c.10G>C XP_011534660.1:p.Val4Leu
XM_017020929.2:c.10G>C XP_016876418.1:p.Val4Leu
NM_001384158.1:c.301G>C NP_001371087.1:p.Val101Leu
NM_001384159.1:c.229G>C NP_001371088.1:p.Val77Leu
NM_001384160.1:c.178G>C NP_001371089.1:p.Val60Leu
NM_001384161.1:c.10G>C NP_001371090.1:p.Val4Leu
NM_001384162.1:c.10G>C NP_001371091.1:p.Val4Leu
NM_006329.4:c.178G>C MANE Select NP_006320.2:p.Val60Leu
Search 100 bp 5'
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