Canonical Allele Identifier: CA571557036

Gene:

Linked Data

• dbSNP Id: rs1490522179
• gnomAD v2: 6-161089611-G-C
• gnomAD v3: 6-160668579-G-C
• gnomAD v4: 6-160668579-G-C
• MyVariant Identifiers: chr6:g.161089611G>C (hg19) ; chr6:g.160668579G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160668579G>C , CM000668.2:g.160668579G>C	GRCh38
NC_000006.11:g.161089611G>C , CM000668.1:g.161089611G>C	GRCh37
NC_000006.10:g.161009601G>C	NCBI36
NG_016147.1:g.2797C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452651.1:n.115-2206C>G