Canonical Allele Identifier: CA2649624358

Gene:

Linked Data

• dbSNP Id: rs912349944
• gnomAD v4: 1-193121865-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121865G>A , CM000663.2:g.193121865G>A	GRCh38
NC_000001.10:g.193090995G>A , CM000663.1:g.193090995G>A	GRCh37
NC_000001.9:g.191357618G>A	NCBI36
NG_012691.1:g.4908G>A , LRG_507:g.4908G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1792C>T