Canonical Allele Identifier: CA1096565505

Gene:

Linked Data

• dbSNP Id: rs2115121781
• gnomAD v3: 6-160668805-C-G
• gnomAD v4: 6-160668805-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160668805C>G , CM000668.2:g.160668805C>G	GRCh38
NC_000006.11:g.161089837C>G , CM000668.1:g.161089837C>G	GRCh37
NC_000006.10:g.161009827C>G	NCBI36
NG_016147.1:g.2571G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452651.1:n.115-2432G>C