Canonical Allele Identifier: CA2649657828
Gene: F13B HGNC NCBI

Linked Data

gnomAD v4: 1-197039330-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039330G>T , CM000663.2:g.197039330G>T GRCh38
NC_000001.10:g.197008460G>T , CM000663.1:g.197008460G>T GRCh37
NC_000001.9:g.195275083G>T NCBI36
NG_012065.1:g.32938C>A , LRG_550:g.32938C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367412.2:c.*48C>A MANE Select ENSP00000356382.2:n.*48C>A
ENST00000649282.1:c.789C>A ENSP00000497116.1:n.789C>A
ENST00000367412.1:c.*48C>A ENSP00000356382.1:n.*48C>A
NM_001994.2:c.*48C>A , LRG_550t1:c.*48C>A NP_001985.2:n.*48C>A
XM_011509283.2:c.*969C>A XP_011507585.1:n.*969C>A
XM_011509284.2:c.*969C>A XP_011507586.1:n.*969C>A
XM_011509286.2:c.*969C>A XP_011507588.1:n.*969C>A
NM_001994.3:c.*48C>A MANE Select NP_001985.2:n.*48C>A
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