Canonical Allele Identifier: CA2573973354
Gene: F13B HGNC NCBI

Linked Data

gnomAD v4: 1-197039315-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039315A>G , CM000663.2:g.197039315A>G GRCh38
NC_000001.10:g.197008445A>G , CM000663.1:g.197008445A>G GRCh37
NC_000001.9:g.195275068A>G NCBI36
NG_012065.1:g.32953T>C , LRG_550:g.32953T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367412.2:c.*63T>C MANE Select ENSP00000356382.2:n.*63T>C
ENST00000649282.1:c.804T>C ENSP00000497116.1:n.804T>C
ENST00000367412.1:c.*63T>C ENSP00000356382.1:n.*63T>C
NM_001994.2:c.*63T>C , LRG_550t1:c.*63T>C NP_001985.2:n.*63T>C
XM_011509283.2:c.*984T>C XP_011507585.1:n.*984T>C
XM_011509284.2:c.*984T>C XP_011507586.1:n.*984T>C
XM_011509286.2:c.*984T>C XP_011507588.1:n.*984T>C
NM_001994.3:c.*63T>C MANE Select NP_001985.2:n.*63T>C
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