Canonical Allele Identifier: CA14657307
Gene: GDF15 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.18389005G>C
GRCh37 chr19:g.18499815G>C
gnomAD v2:
19:18499815 G / C
gnomAD v3:
19:18389005 G / C
gnomAD v4:
chr19-18389005-G-C
Joint Max Group AF 0.1895172 (EAS)
Genomes Max Group AF 0.16088989 (EAS)
Exomes Max Group AF 0.1925829 (EAS)
dbSNP:
1054564
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18389005G>C , CM000681.2:g.18389005G>C GRCh38
NC_000019.9:g.18499815G>C , CM000681.1:g.18499815G>C GRCh37
NC_000019.8:g.18360815G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000252809.3:c.*70G>C MANE Select ENSP00000252809.3:n.*70G>C
NM_004864.2:c.*70G>C NP_004855.2:n.*70G>C
NM_004864.3:c.*70G>C NP_004855.2:n.*70G>C
XM_024451789.1:c.*70G>C XP_024307557.1:n.*70G>C
NM_004864.4:c.*70G>C MANE Select NP_004855.2:n.*70G>C
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