Canonical Allele Identifier: CA1096565014

Gene:

Linked Data

• dbSNP Id: rs1780347813
• gnomAD v3: 6-160668478-T-C
• gnomAD v4: 6-160668478-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160668478T>C , CM000668.2:g.160668478T>C	GRCh38
NC_000006.11:g.161089510T>C , CM000668.1:g.161089510T>C	GRCh37
NC_000006.10:g.161009500T>C	NCBI36
NG_016147.1:g.2898A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452651.1:n.115-2105A>G