Canonical Allele Identifier: CA2594999667

Gene:

Linked Data

• dbSNP Id: rs2128585656
• gnomAD v3: 7-30897611-G-A
• gnomAD v4: 7-30897611-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897611G>A , CM000669.2:g.30897611G>A	GRCh38
NC_000007.13:g.30937226G>A , CM000669.1:g.30937226G>A	GRCh37
NC_000007.12:g.30903751G>A	NCBI36
NG_007475.2:g.49218G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509504.2:c.622-14382G>A