Canonical Allele Identifier: CA35869254
Gene: F13B HGNC NCBI

Linked Data

dbSNP Id: rs573105492
gnomAD v2: 1-197008233-G-C
gnomAD v3: 1-197039103-G-C
gnomAD v4: 1-197039103-G-C
MyVariant Identifiers: chr1:g.197008233G>C (hg19) chr1:g.197039103G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039103G>C , CM000663.2:g.197039103G>C GRCh38
NC_000001.10:g.197008233G>C , CM000663.1:g.197008233G>C GRCh37
NC_000001.9:g.195274856G>C NCBI36
NG_012065.1:g.33165C>G , LRG_550:g.33165C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.*275C>G MANE Select ENSP00000356382.2:n.*275C>G
ENST00000649282.1:c.1016C>G ENSP00000497116.1:n.1016C>G
XM_011509283.2:c.*1196C>G XP_011507585.1:n.*1196C>G
XM_011509284.2:c.*1196C>G XP_011507586.1:n.*1196C>G
XM_011509286.2:c.*1196C>G XP_011507588.1:n.*1196C>G
NM_001994.3:c.*275C>G MANE Select NP_001985.2:n.*275C>G
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