Canonical Allele Identifier: CA2649624228

Gene:

Linked Data

• gnomAD v4: 1-193121750-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121750G>C , CM000663.2:g.193121750G>C	GRCh38
NC_000001.10:g.193090880G>C , CM000663.1:g.193090880G>C	GRCh37
NC_000001.9:g.191357503G>C	NCBI36
NG_012691.1:g.4793G>C , LRG_507:g.4793G>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1907C>G