Canonical Allele Identifier: CA1308172
Gene: F13B HGNC NCBI

Linked Data

dbSNP Id: rs768550082
ExAC: 1:197008466 C / A
gnomAD v2: 1-197008466-C-A
gnomAD v3: 1-197039336-C-A
gnomAD v4: 1-197039336-C-A
MyVariant Identifiers: chr1:g.197008466C>A (hg19) chr1:g.197039336C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039336C>A , CM000663.2:g.197039336C>A GRCh38
NC_000001.10:g.197008466C>A , CM000663.1:g.197008466C>A GRCh37
NC_000001.9:g.195275089C>A NCBI36
NG_012065.1:g.32932G>T , LRG_550:g.32932G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367412.2:c.*42G>T MANE Select ENSP00000356382.2:n.*42G>T
ENST00000649282.1:c.783G>T ENSP00000497116.1:n.783G>T
ENST00000367412.1:c.*42G>T ENSP00000356382.1:n.*42G>T
NM_001994.2:c.*42G>T , LRG_550t1:c.*42G>T NP_001985.2:n.*42G>T
XM_011509283.2:c.*963G>T XP_011507585.1:n.*963G>T
XM_011509284.2:c.*963G>T XP_011507586.1:n.*963G>T
XM_011509286.2:c.*963G>T XP_011507588.1:n.*963G>T
NM_001994.3:c.*42G>T MANE Select NP_001985.2:n.*42G>T
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