Canonical Allele Identifier: CA914024406

Gene:

Linked Data

• dbSNP Id: rs1567141476
• gnomAD v2: 15-70048191-T-C
• gnomAD v3: 15-69755852-T-C
• gnomAD v4: 15-69755852-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.69755852T>C , CM000677.2:g.69755852T>C	GRCh38
NC_000015.9:g.70048191T>C , CM000677.1:g.70048191T>C	GRCh37
NC_000015.8:g.67835245T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001751592.2:n.86-304T>C