Canonical Allele Identifier: CA1035793712

Gene:

Linked Data

• dbSNP Id: rs1678947798
• gnomAD v3: 2-122368964-A-T
• gnomAD v4: 2-122368964-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122368964A>T , CM000664.2:g.122368964A>T	GRCh38
NC_000002.11:g.123126540A>T , CM000664.1:g.123126540A>T	GRCh37
NC_000002.10:g.122843010A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-23999A>T
XR_001739684.1:n.556-23999A>T