Canonical Allele Identifier: CA1308179
Gene: F13B HGNC NCBI

Linked Data

dbSNP Id: rs766703959

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039383T>G , CM000663.2:g.197039383T>G GRCh38
NC_000001.10:g.197008513T>G , CM000663.1:g.197008513T>G GRCh37
NC_000001.9:g.195275136T>G NCBI36
NG_012065.1:g.32885A>C , LRG_550:g.32885A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.1981A>C MANE Select ENSP00000356382.2:p.Thr661Pro
ENST00000649282.1:c.736A>C ENSP00000497116.1:p.Thr246Pro
ENST00000367412.1:c.1981A>C ENSP00000356382.1:p.Thr661Pro
NM_001994.2:c.1981A>C , LRG_550t1:c.1981A>C NP_001985.2:p.Thr661Pro
XM_011509283.2:c.*916A>C XP_011507585.1:n.*916A>C
XM_011509284.2:c.*916A>C XP_011507586.1:n.*916A>C
XM_011509286.2:c.*916A>C XP_011507588.1:n.*916A>C
NM_001994.3:c.1981A>C MANE Select NP_001985.2:p.Thr661Pro