Canonical Allele Identifier: CA14499476
Gene: SOCS3 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.78357829T>C
GRCh37 chr17:g.76353910T>C
gnomAD v2:
17:76353910 T / C
gnomAD v3:
17:78357829 T / C
gnomAD v4:
chr17-78357829-T-C
Joint Max Group AF 0.93415854 (AFR)
Genomes Max Group AF 0.93415539 (AFR)
Exomes Max Group AF 0.82213506 (NFE)
dbSNP:
4969169
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78357829T>C , CM000679.2:g.78357829T>C GRCh38
NC_000017.10:g.76353910T>C , CM000679.1:g.76353910T>C GRCh37
NC_000017.9:g.73865505T>C NCBI36
NG_016851.1:g.7249A>G , LRG_619:g.7249A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330871.3:c.*589A>G MANE Select ENSP00000330341.2:n.*589A>G
NM_003955.4:c.*589A>G , LRG_619t1:c.*589A>G NP_003946.3:n.*589A>G
NM_001378932.1:c.*589A>G NP_001365861.1:n.*589A>G
NM_001378933.1:c.*589A>G NP_001365862.1:n.*589A>G
NM_003955.5:c.*589A>G MANE Select NP_003946.3:n.*589A>G
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