Canonical Allele Identifier: CA1096565183

Gene:

Linked Data

• dbSNP Id: rs1562360325
• gnomAD v3: 6-160668691-G-C
• gnomAD v4: 6-160668691-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160668691G>C , CM000668.2:g.160668691G>C	GRCh38
NC_000006.11:g.161089723G>C , CM000668.1:g.161089723G>C	GRCh37
NC_000006.10:g.161009713G>C	NCBI36
NG_016147.1:g.2685C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452651.1:n.115-2318C>G