Canonical Allele Identifier: CA14218204
Gene:
MyVariant.info:
GRCh38 chr16:g.30624338A>G
GRCh37 chr16:g.30635659A>G
gnomAD v2:
16:30635659 A / G
gnomAD v3:
16:30624338 A / G
gnomAD v4:
chr16-30624338-A-G
Joint Max Group AF 0.72450827 (AFR)
Genomes Max Group AF 0.72450827 (AFR)
Exomes Max Group AF 0.33173481 (SAS)
dbSNP:
7186852
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30624338A>G , CM000678.2:g.30624338A>G GRCh38
NC_000016.9:g.30635659A>G , CM000678.1:g.30635659A>G GRCh37
NC_000016.8:g.30543160A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000568120.1:n.377T>C
Search 100 bp 5'
Search 100 bp 3'