Canonical Allele Identifier: CA1979711943

Gene:

Linked Data

• dbSNP Id: rs1855914891
• gnomAD v4: 11-66510562-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510562T>C , CM000673.2:g.66510562T>C	GRCh38
NC_000011.9:g.66278033T>C , CM000673.1:g.66278033T>C	GRCh37
NC_000011.8:g.66034609T>C	NCBI36
NG_009093.1:g.4915T>C
NG_032068.1:g.35154T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419755.3:c.159-451T>C	ENSP00000398526.3:n.159-451T>C