ClinGen Allele Registry
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Canonical Allele Identifier:
CA12351341
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.33518955G>A
GRCh37
chr6:g.33486732G>A
Linked Data - Sequence & Population
gnomAD v2:
6:33486732 G / A
gnomAD v3:
6:33518955 G / A
gnomAD v4:
chr6-33518955-G-A
Joint Max Group AF
0.10577081 (AFR)
Genomes Max Group AF
0.10577081 (AFR)
Linked Data - NCBI & NCI
dbSNP:
6457730
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.33518955G>A , CM000668.2:g.33518955G>A
GRCh38
NC_000006.11:g.33486732G>A , CM000668.1:g.33486732G>A
GRCh37
NC_000006.10:g.33594710G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001743876.1:n.144+410C>T
Search 100 bp 5'
Search 100 bp 3'