Canonical Allele Identifier: CA1308184
Gene: F13B HGNC NCBI

Linked Data

dbSNP Id: rs374392525
ExAC: 1:197008544 T / C
gnomAD v2: 1-197008544-T-C
gnomAD v3: 1-197039414-T-C
gnomAD v4: 1-197039414-T-C
MyVariant Identifiers: chr1:g.197008544T>C (hg19) chr1:g.197039414T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039414T>C , CM000663.2:g.197039414T>C GRCh38
NC_000001.10:g.197008544T>C , CM000663.1:g.197008544T>C GRCh37
NC_000001.9:g.195275167T>C NCBI36
NG_012065.1:g.32854A>G , LRG_550:g.32854A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367412.2:c.1953-3A>G MANE Select ENSP00000356382.2:n.1953-3A>G
ENST00000649282.1:c.708-3A>G ENSP00000497116.1:n.708-3A>G
ENST00000367412.1:c.1953-3A>G ENSP00000356382.1:n.1953-3A>G
NM_001994.2:c.1953-3A>G , LRG_550t1:c.1953-3A>G NP_001985.2:n.1953-3A>G
XM_011509283.2:c.*885A>G XP_011507585.1:n.*885A>G
XM_011509284.2:c.*885A>G XP_011507586.1:n.*885A>G
XM_011509286.2:c.*885A>G XP_011507588.1:n.*885A>G
NM_001994.3:c.1953-3A>G MANE Select NP_001985.2:n.1953-3A>G
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