Canonical Allele Identifier: CA1217904161
Gene: F13B HGNC NCBI

Linked Data

dbSNP Id: rs1654948364
gnomAD v4: 1-197039213-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039213A>C , CM000663.2:g.197039213A>C GRCh38
NC_000001.10:g.197008343A>C , CM000663.1:g.197008343A>C GRCh37
NC_000001.9:g.195274966A>C NCBI36
NG_012065.1:g.33055T>G , LRG_550:g.33055T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.*165T>G MANE Select ENSP00000356382.2:n.*165T>G
ENST00000649282.1:c.906T>G ENSP00000497116.1:n.906T>G
ENST00000367412.1:c.*165T>G ENSP00000356382.1:n.*165T>G
NM_001994.2:c.*165T>G , LRG_550t1:c.*165T>G NP_001985.2:n.*165T>G
XM_011509283.2:c.*1086T>G XP_011507585.1:n.*1086T>G
XM_011509284.2:c.*1086T>G XP_011507586.1:n.*1086T>G
XM_011509286.2:c.*1086T>G XP_011507588.1:n.*1086T>G
NM_001994.3:c.*165T>G MANE Select NP_001985.2:n.*165T>G
Search 100 bp 5'
Search 100 bp 3'