Canonical Allele Identifier: CA1042430026
Gene:

Linked Data

dbSNP Id: rs1689247158
gnomAD v3: 2-218216604-T-C
gnomAD v4: 2-218216604-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218216604T>C , CM000664.2:g.218216604T>C GRCh38
NC_000002.11:g.219081327T>C , CM000664.1:g.219081327T>C GRCh37
NC_000002.10:g.218789572T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_241416.2:n.341A>G
XR_923908.1:n.338A>G
Search 100 bp 5'
Search 100 bp 3'