Canonical Allele Identifier: CA1041463632
Gene:

Linked Data

dbSNP Id: rs1689616072
gnomAD v3: 2-203934624-A-G
gnomAD v4: 2-203934624-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203934624A>G , CM000664.2:g.203934624A>G GRCh38
NC_000002.11:g.204799347A>G , CM000664.1:g.204799347A>G GRCh37
NC_000002.10:g.204507592A>G NCBI36
NG_011586.1:g.2845A>G , LRG_65:g.2845A>G

Transcript Alleles

HGVS Amino-acid change
XR_427213.2:n.460+1484T>C
XR_001739861.1:n.1644T>C
XR_427213.3:n.474+1484T>C
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