Canonical Allele Identifier: CA2649657830
Gene: F13B HGNC NCBI

Linked Data

gnomAD v4: 1-197039332-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039332A>G , CM000663.2:g.197039332A>G GRCh38
NC_000001.10:g.197008462A>G , CM000663.1:g.197008462A>G GRCh37
NC_000001.9:g.195275085A>G NCBI36
NG_012065.1:g.32936T>C , LRG_550:g.32936T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367412.2:c.*46T>C MANE Select ENSP00000356382.2:n.*46T>C
ENST00000649282.1:c.787T>C ENSP00000497116.1:n.787T>C
ENST00000367412.1:c.*46T>C ENSP00000356382.1:n.*46T>C
NM_001994.2:c.*46T>C , LRG_550t1:c.*46T>C NP_001985.2:n.*46T>C
XM_011509283.2:c.*967T>C XP_011507585.1:n.*967T>C
XM_011509284.2:c.*967T>C XP_011507586.1:n.*967T>C
XM_011509286.2:c.*967T>C XP_011507588.1:n.*967T>C
NM_001994.3:c.*46T>C MANE Select NP_001985.2:n.*46T>C
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