Canonical Allele Identifier: CA763641380
Gene:

Linked Data

dbSNP Id: rs763267606
gnomAD v3: 2-20485711-G-C
gnomAD v4: 2-20485711-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20485711G>C , CM000664.2:g.20485711G>C GRCh38
NC_000002.11:g.20685472G>C , CM000664.1:g.20685472G>C GRCh37
NC_000002.10:g.20548953G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_157978.1:n.530+3027C>G