Canonical Allele Identifier: CA2649658854

Gene: F13B

Linked Data

• gnomAD v4: 1-197056950-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197056950G>T , CM000663.2:g.197056950G>T	GRCh38
NC_000001.10:g.197026080G>T , CM000663.1:g.197026080G>T	GRCh37
NC_000001.9:g.195292703G>T	NCBI36
NG_012065.1:g.15318C>A , LRG_550:g.15318C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367412.2:c.1171+63C>A MANE Select	ENSP00000356382.2:n.1171+63C>A
ENST00000367412.1:c.1171+63C>A	ENSP00000356382.1:n.1171+63C>A
NM_001994.2:c.1171+63C>A , LRG_550t1:c.1171+63C>A	NP_001985.2:n.1171+63C>A
XM_011509283.1:c.1171+63C>A	XP_011507585.1:n.1171+63C>A
XM_011509284.1:c.1168+63C>A	XP_011507586.1:n.1168+63C>A
XM_011509285.1:c.1075+63C>A	XP_011507587.1:n.1075+63C>A
XM_011509286.1:c.1027+63C>A	XP_011507588.1:n.1027+63C>A
XM_011509283.2:c.1171+63C>A	XP_011507585.1:n.1171+63C>A
XM_011509284.2:c.1168+63C>A	XP_011507586.1:n.1168+63C>A
XM_011509286.2:c.1027+63C>A	XP_011507588.1:n.1027+63C>A
NM_001994.3:c.1171+63C>A MANE Select	NP_001985.2:n.1171+63C>A