Canonical Allele Identifier: CA1096565032

Gene:

Linked Data

• dbSNP Id: rs561982209
• gnomAD v3: 6-160668494-C-A
• gnomAD v4: 6-160668494-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160668494C>A , CM000668.2:g.160668494C>A	GRCh38
NC_000006.11:g.161089526C>A , CM000668.1:g.161089526C>A	GRCh37
NC_000006.10:g.161009516C>A	NCBI36
NG_016147.1:g.2882G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452651.1:n.115-2121G>T