Canonical Allele Identifier: CA1098599340

Gene:

Linked Data

• dbSNP Id: rs1780381124
• gnomAD v3: 7-13514141-G-T
• gnomAD v4: 7-13514141-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13514141G>T , CM000669.2:g.13514141G>T	GRCh38
NC_000007.13:g.13553766G>T , CM000669.1:g.13553766G>T	GRCh37
NC_000007.12:g.13520291G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.148-188175G>T