Canonical Allele Identifier: CA98367557
Gene:

Linked Data

dbSNP Id: rs544661357
gnomAD v2: 4-63423863-G-C
gnomAD v3: 4-62558145-G-C
gnomAD v4: 4-62558145-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558145G>C , CM000666.2:g.62558145G>C GRCh38
NC_000004.11:g.63423863G>C , CM000666.1:g.63423863G>C GRCh37
NC_000004.10:g.63106458G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5699G>C