Canonical Allele Identifier: CA156094383

Gene:

Linked Data

• dbSNP Id: rs565657112
• gnomAD v2: 7-30937082-G-T
• gnomAD v3: 7-30897467-G-T
• gnomAD v4: 7-30897467-G-T
• MyVariant Identifiers: chr7:g.30937082G>T (hg19) ; chr7:g.30897467G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897467G>T , CM000669.2:g.30897467G>T	GRCh38
NC_000007.13:g.30937082G>T , CM000669.1:g.30937082G>T	GRCh37
NC_000007.12:g.30903607G>T	NCBI36
NG_007475.2:g.49074G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.621+14474G>T