Canonical Allele Identifier: CA1040809092

Gene:

Linked Data

• dbSNP Id: rs1688120301
• gnomAD v3: 2-195007055-C-T
• gnomAD v4: 2-195007055-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195007055C>T , CM000664.2:g.195007055C>T	GRCh38
NC_000002.11:g.195871779C>T , CM000664.1:g.195871779C>T	GRCh37
NC_000002.10:g.195580024C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001739836.1:n.553+52380G>A