Canonical Allele Identifier: CA2491383595

Gene:

Linked Data

• dbSNP Id: rs1664551172
• gnomAD v3: 2-16458171-G-T
• gnomAD v4: 2-16458171-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.16458171G>T , CM000664.2:g.16458171G>T	GRCh38
NC_000002.11:g.16639439G>T , CM000664.1:g.16639439G>T	GRCh37
NC_000002.10:g.16502920G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939752.1:n.396-3077C>A