Canonical Allele Identifier: CA254927

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.644634T>C , CM000686.2:g.644634T>C	GRCh38
NC_000024.9:g.555369T>C , CM000686.1:g.555369T>C	GRCh37
NC_000024.8:g.525369T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711141.1:c.633+3547T>C	ENSP00000518639.1:n.633+3547T>C
ENST00000711142.1:c.877T>C	ENSP00000518640.1:p.Ter293Arg
ENST00000711143.1:c.633+3547T>C	ENSP00000518641.1:n.633+3547T>C
ENST00000711145.1:c.877T>C	ENSP00000518642.1:p.Ter293Arg