Canonical Allele Identifier: CA2216888485

Gene:

Linked Data

• dbSNP Id: rs2057282860
• gnomAD v4: 16-31090822-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31090822A>G , CM000678.2:g.31090822A>G	GRCh38
NC_000016.9:g.31102143A>G , CM000678.1:g.31102143A>G	GRCh37
NC_000016.8:g.31009644A>G	NCBI36
NG_011564.1:g.9134T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529564.1:c.283+2490T>C	ENSP00000431371.1:n.283+2490T>C
ENST00000532364.1:c.173+3735T>C	ENSP00000460316.1:n.173+3735T>C
ENST00000533518.5:c.407+270T>C