Canonical Allele Identifier: CA13793797
Gene:
MyVariant.info:
GRCh38 chr13:g.80070483G>A
GRCh37 chr13:g.80644618G>A
gnomAD v2:
13:80644618 G / A
gnomAD v3:
13:80070483 G / A
gnomAD v4:
chr13-80070483-G-A
Joint Max Group AF 0.70274528 (EAS)
Genomes Max Group AF 0.70274528 (EAS)
Exomes Max Group AF 0.18251704 (NFE)
dbSNP:
12431307
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.80070483G>A , CM000675.2:g.80070483G>A GRCh38
NC_000013.10:g.80644618G>A , CM000675.1:g.80644618G>A GRCh37
NC_000013.9:g.79542619G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011535340.1:c.335-669C>T XP_011533642.1:n.335-669C>T
XM_011535341.1:c.335-46C>T XP_011533643.1:n.335-46C>T
XR_942113.1:n.1077-46C>T
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