Canonical Allele Identifier: CA156094381

Gene:

Linked Data

• dbSNP Id: rs575049195
• gnomAD v2: 7-30937080-A-G
• gnomAD v3: 7-30897465-A-G
• gnomAD v4: 7-30897465-A-G
• MyVariant Identifiers: chr7:g.30937080A>G (hg19) ; chr7:g.30897465A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897465A>G , CM000669.2:g.30897465A>G	GRCh38
NC_000007.13:g.30937080A>G , CM000669.1:g.30937080A>G	GRCh37
NC_000007.12:g.30903605A>G	NCBI36
NG_007475.2:g.49072A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.621+14472A>G