Canonical Allele Identifier: CA14484857
Gene: SOCS3 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.78358299T>G
GRCh37 chr17:g.76354380T>G
gnomAD v2:
17:76354380 T / G
gnomAD v3:
17:78358299 T / G
gnomAD v4:
chr17-78358299-T-G
Joint Max Group AF 0.19190746 (EAS)
Genomes Max Group AF 0.19425112 (EAS)
Exomes Max Group AF 0.19028558 (EAS)
dbSNP:
2280148
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78358299T>G , CM000679.2:g.78358299T>G GRCh38
NC_000017.10:g.76354380T>G , CM000679.1:g.76354380T>G GRCh37
NC_000017.9:g.73865975T>G NCBI36
NG_016851.1:g.6779A>C , LRG_619:g.6779A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330871.3:c.*119A>C MANE Select ENSP00000330341.2:n.*119A>C
NM_003955.4:c.*119A>C , LRG_619t1:c.*119A>C NP_003946.3:n.*119A>C
NM_001378932.1:c.*119A>C NP_001365861.1:n.*119A>C
NM_001378933.1:c.*119A>C NP_001365862.1:n.*119A>C
NM_003955.5:c.*119A>C MANE Select NP_003946.3:n.*119A>C
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