Canonical Allele Identifier: CA151235412

Gene:

Linked Data

• dbSNP Id: rs1046471901
• gnomAD v2: 6-161089647-T-C
• gnomAD v3: 6-160668615-T-C
• gnomAD v4: 6-160668615-T-C
• MyVariant Identifiers: chr6:g.161089647T>C (hg19) ; chr6:g.160668615T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160668615T>C , CM000668.2:g.160668615T>C	GRCh38
NC_000006.11:g.161089647T>C , CM000668.1:g.161089647T>C	GRCh37
NC_000006.10:g.161009637T>C	NCBI36
NG_016147.1:g.2761A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452651.1:n.115-2242A>G