ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA7349678
Gene: MIR1185-2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr14:g.101044276G>C
GRCh37
chr14:g.101510613G>C
Linked Data - Sequence & Population
gnomAD v2:
14:101510613 G / C
gnomAD v3:
14:101044276 G / C
gnomAD v4:
chr14-101044276-G-C
Joint Max Group AF
0.00163303 (AFR)
Genomes Max Group AF
0.00169388 (AFR)
Exomes Max Group AF
0.00095473 (AFR)
Linked Data - NCBI & NCI
dbSNP:
11844707
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.101044276G>C , CM000676.2:g.101044276G>C
GRCh38
NC_000014.8:g.101510613G>C , CM000676.1:g.101510613G>C
GRCh37
NC_000014.7:g.100580366G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_031571.1:n.79G>C
Search 100 bp 5'
Search 100 bp 3'