Canonical Allele Identifier: CA1096565177

Gene:

Linked Data

• dbSNP Id: rs1780352994
• gnomAD v3: 6-160668688-G-A
• gnomAD v4: 6-160668688-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160668688G>A , CM000668.2:g.160668688G>A	GRCh38
NC_000006.11:g.161089720G>A , CM000668.1:g.161089720G>A	GRCh37
NC_000006.10:g.161009710G>A	NCBI36
NG_016147.1:g.2688C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452651.1:n.115-2315C>T