Canonical Allele Identifier: CA16546614
Gene: SOCS3 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.78360015T>G
GRCh37 chr17:g.76356096T>G
gnomAD v2:
17:76356096 T / G
gnomAD v3:
17:78360015 T / G
gnomAD v4:
chr17-78360015-T-G
Joint Max Group AF 0.92773776 (AFR)
Genomes Max Group AF 0.92785078 (AFR)
Exomes Max Group AF 0.90546966 (SAS)
dbSNP:
12953258
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78360015T>G , CM000679.2:g.78360015T>G GRCh38
NC_000017.10:g.76356096T>G , CM000679.1:g.76356096T>G GRCh37
NC_000017.9:g.73867691T>G NCBI36
NG_016851.1:g.5063A>C , LRG_619:g.5063A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330871.3:c.-354A>C MANE Select ENSP00000330341.2:n.-354A>C
ENST00000587578.1:c.-255A>C ENSP00000464727.1:n.-255A>C
NM_003955.4:c.-354A>C , LRG_619t1:c.-354A>C NP_003946.3:n.-354A>C
NM_001378933.1:c.-88-832A>C NP_001365862.1:n.-88-832A>C
NM_003955.5:c.-354A>C MANE Select NP_003946.3:n.-354A>C
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