Canonical Allele Identifier: CA343993281
Gene: F13B HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.197008526T>G (hg19) chr1:g.197039396T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039396T>G , CM000663.2:g.197039396T>G GRCh38
NC_000001.10:g.197008526T>G , CM000663.1:g.197008526T>G GRCh37
NC_000001.9:g.195275149T>G NCBI36
NG_012065.1:g.32872A>C , LRG_550:g.32872A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.1968A>C MANE Select ENSP00000356382.2:p.Gln656His
ENST00000649282.1:c.723A>C ENSP00000497116.1:p.Gln241His
ENST00000367412.1:c.1968A>C ENSP00000356382.1:p.Gln656His
NM_001994.2:c.1968A>C , LRG_550t1:c.1968A>C NP_001985.2:p.Gln656His
XM_011509283.2:c.*903A>C XP_011507585.1:n.*903A>C
XM_011509284.2:c.*903A>C XP_011507586.1:n.*903A>C
XM_011509286.2:c.*903A>C XP_011507588.1:n.*903A>C
NM_001994.3:c.1968A>C MANE Select NP_001985.2:p.Gln656His
Search 100 bp 5'
Search 100 bp 3'