Linked Data
ClinVar Variation Id:
135275
dbSNP Id:
rs11549428
ExAC:
16:11348706 C / G
gnomAD v2:
16-11348706-C-G
gnomAD v3:
16-11254849-C-G
gnomAD v4:
16-11254849-C-G
COSMIC:
COSM36138
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11254849C>G , CM000678.2:g.11254849C>G | GRCh38 |
| NC_000016.9:g.11348706C>G , CM000678.1:g.11348706C>G | GRCh37 |
| NC_000016.8:g.11256207C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332029.4:c.630G>C (SOCS1) MANE Select | ENSP00000329418.2:p.Gln210His | |
| ENST00000332029.3:c.630G>C (SOCS1) | ENSP00000329418.2:p.Gln210His | |
| ENST00000644787.1:c.630G>C (SOCS1) | ENSP00000496577.1:p.Gln210His | |
| ENST00000649869.1:n.152+5071C>G (RMI2) | ||
| ENST00000332029.2:c.630G>C (SOCS1) | ENSP00000329418.2:p.Gln210His | |
| ENST00000572173.1:c.-516+5071C>G (RMI2) | ENSP00000461206.1:n.-516+5071C>G | |
| ENST00000573910.1:n.160+5071C>G (RMI2) | ||
| NM_003745.1:c.630G>C (SOCS1) | NP_003736.1:p.Gln210His | |
| XR_933070.1:n.733+5071C>G | ||
| XR_933070.3:n.876+5071C>G | ||
| NM_003745.2:c.630G>C (SOCS1) MANE Select | NP_003736.1:p.Gln210His |