Canonical Allele Identifier: CA1064182265

Gene:

Linked Data

• dbSNP Id: rs1000301219
• gnomAD v3: 4-74554202-G-T
• gnomAD v4: 4-74554202-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554202G>T , CM000666.2:g.74554202G>T	GRCh38
NC_000004.11:g.75419919G>T , CM000666.1:g.75419919G>T	GRCh37
NC_000004.10:g.75638783G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741513.1:n.167-1370C>A