Canonical Allele Identifier: CA151235211

Gene:

Linked Data

• dbSNP Id: rs751265040
• gnomAD v2: 6-161089467-C-T
• gnomAD v3: 6-160668435-C-T
• gnomAD v4: 6-160668435-C-T
• MyVariant Identifiers: chr6:g.161089467C>T (hg19) ; chr6:g.160668435C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160668435C>T , CM000668.2:g.160668435C>T	GRCh38
NC_000006.11:g.161089467C>T , CM000668.1:g.161089467C>T	GRCh37
NC_000006.10:g.161009457C>T	NCBI36
NG_016147.1:g.2941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452651.1:n.115-2062G>A