Canonical Allele Identifier: CA1096565054

Gene:

Linked Data

• dbSNP Id: rs1780349376
• gnomAD v3: 6-160668562-A-G
• gnomAD v4: 6-160668562-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160668562A>G , CM000668.2:g.160668562A>G	GRCh38
NC_000006.11:g.161089594A>G , CM000668.1:g.161089594A>G	GRCh37
NC_000006.10:g.161009584A>G	NCBI36
NG_016147.1:g.2814T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452651.1:n.115-2189T>C