Canonical Allele Identifier: CA1108532881

Gene:

Linked Data

• dbSNP Id: rs1801701915
• gnomAD v3: 7-148807220-G-A
• gnomAD v4: 7-148807220-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807220G>A , CM000669.2:g.148807220G>A	GRCh38
NC_000007.13:g.148504312G>A , CM000669.1:g.148504312G>A	GRCh37
NC_000007.12:g.148135245G>A	NCBI36
NG_032043.1:g.82130C>T , LRG_531:g.82130C>T

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2135G>A
XR_928102.1:n.722+2135G>A