Canonical Allele Identifier: CA1047754859

Gene:

Linked Data

• dbSNP Id: rs2047911566
• gnomAD v3: 3-49359119-C-T
• gnomAD v4: 3-49359119-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49359119C>T , CM000665.2:g.49359119C>T	GRCh38
NC_000003.11:g.49396552C>T , CM000665.1:g.49396552C>T	GRCh37
NC_000003.10:g.49371556C>T	NCBI36
NG_012264.1:g.4240G>A
NG_051308.1:g.57979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704380.1:n.23G>A
ENST00000704381.1:c.464+1208G>A	ENSP00000515884.1:n.464+1208G>A