Canonical Allele Identifier: CA2649657821
Gene: F13B HGNC NCBI

Linked Data

gnomAD v4: 1-197039321-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039321T>C , CM000663.2:g.197039321T>C GRCh38
NC_000001.10:g.197008451T>C , CM000663.1:g.197008451T>C GRCh37
NC_000001.9:g.195275074T>C NCBI36
NG_012065.1:g.32947A>G , LRG_550:g.32947A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367412.2:c.*57A>G MANE Select ENSP00000356382.2:n.*57A>G
ENST00000649282.1:c.798A>G ENSP00000497116.1:n.798A>G
ENST00000367412.1:c.*57A>G ENSP00000356382.1:n.*57A>G
NM_001994.2:c.*57A>G , LRG_550t1:c.*57A>G NP_001985.2:n.*57A>G
XM_011509283.2:c.*978A>G XP_011507585.1:n.*978A>G
XM_011509284.2:c.*978A>G XP_011507586.1:n.*978A>G
XM_011509286.2:c.*978A>G XP_011507588.1:n.*978A>G
NM_001994.3:c.*57A>G MANE Select NP_001985.2:n.*57A>G
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