Canonical Allele Identifier: CA210740
Gene: F13B HGNC NCBI

Linked Data

ClinVar Variation Id: 16520
ClinVar RCV Id: RCV000017984 RCV000253350 RCV000301691 RCV001642228
dbSNP Id: rs6003
ExAC: 1:197031021 C / T
gnomAD v2: 1-197031021-C-T
gnomAD v3: 1-197061891-C-T
gnomAD v4: 1-197061891-C-T
MyVariant Identifiers: chr1:g.197031021C>T (hg19) chr1:g.197061891C>T (hg38)
PubMed: PMID:12456499 PMID:16241947
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197061891C>T , CM000663.2:g.197061891C>T GRCh38
NC_000001.10:g.197031021C>T , CM000663.1:g.197031021C>T GRCh37
NC_000001.9:g.195297644C>T NCBI36
NG_012065.1:g.10377G>A , LRG_550:g.10377G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367412.2:c.344G>A MANE Select ENSP00000356382.2:p.Arg115His
ENST00000367412.1:c.344G>A ENSP00000356382.1:p.Arg115His
NM_001994.2:c.344G>A , LRG_550t1:c.344G>A NP_001985.2:p.Arg115His
XM_011509283.1:c.344G>A XP_011507585.1:p.Arg115His
XM_011509284.1:c.344G>A XP_011507586.1:p.Arg115His
XM_011509285.1:c.266-18G>A XP_011507587.1:n.266-18G>A
XM_011509286.1:c.200G>A XP_011507588.1:p.Arg67His
XM_011509283.2:c.344G>A XP_011507585.1:p.Arg115His
XM_011509284.2:c.344G>A XP_011507586.1:p.Arg115His
XM_011509286.2:c.200G>A XP_011507588.1:p.Arg67His
NM_001994.3:c.344G>A MANE Select NP_001985.2:p.Arg115His
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