Canonical Allele Identifier: CA1064182254

Gene:

Linked Data

• dbSNP Id: rs1721063286
• gnomAD v3: 4-74554113-G-T
• gnomAD v4: 4-74554113-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554113G>T , CM000666.2:g.74554113G>T	GRCh38
NC_000004.11:g.75419830G>T , CM000666.1:g.75419830G>T	GRCh37
NC_000004.10:g.75638694G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741513.1:n.167-1281C>A