Canonical Allele Identifier: CA98367588
Gene:

Linked Data

dbSNP Id: rs760916324
gnomAD v3: 4-62558391-G-C
gnomAD v4: 4-62558391-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558391G>C , CM000666.2:g.62558391G>C GRCh38
NC_000004.11:g.63424109G>C , CM000666.1:g.63424109G>C GRCh37
NC_000004.10:g.63106704G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5453G>C