Linked Data
ClinVar Variation Id:
768143
ClinVar RCV Id:
RCV000947003
dbSNP Id:
rs2069830
ExAC:
7:22767137 C / T
gnomAD v2:
7-22767137-C-T
gnomAD v3:
7-22727518-C-T
gnomAD v4:
7-22727518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22727518C>T , CM000669.2:g.22727518C>T | GRCh38 |
| NC_000007.13:g.22767137C>T , CM000669.1:g.22767137C>T | GRCh37 |
| NC_000007.12:g.22733662C>T | NCBI36 |
| NG_011640.1:g.5372C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464710.2:n.342C>T (IL6) | ||
| ENST00000258743.10:c.94C>T (IL6) MANE Select | ENSP00000258743.5:p.Pro32Ser | |
| ENST00000650428.1:n.46+50G>A (STEAP1B) | ||
| ENST00000258743.9:c.94C>T (IL6) | ENSP00000258743.5:p.Pro32Ser | |
| ENST00000401630.7:c.25C>T (IL6) | ENSP00000384928.3:p.Pro9Ser | |
| ENST00000401651.5:c.-19+237C>T (IL6) | ENSP00000385718.1:n.-19+237C>T | |
| ENST00000404625.5:c.94C>T (IL6) | ENSP00000385675.1:p.Pro32Ser | |
| ENST00000406575.1:c.94C>T (IL6) | ENSP00000385227.1:p.Pro32Ser | |
| ENST00000407492.5:c.-19+237C>T (IL6) | ENSP00000385043.1:n.-19+237C>T | |
| ENST00000426291.5:c.94C>T (IL6) | ENSP00000405150.1:p.Pro32Ser | |
| ENST00000485300.1:n.319C>T (IL6) | ||
| NM_000600.3:c.94C>T (IL6) | NP_000591.1:p.Pro32Ser | |
| NR_131935.1:n.53+50G>A (IL6-AS1) | ||
| XM_005249745.3:c.256C>T (IL6) | XP_005249802.1:p.Pro86Ser | |
| XM_011515390.1:c.94C>T (IL6) | XP_011513692.1:p.Pro32Ser | |
| XM_011515391.1:c.-19+237C>T (IL6) | XP_011513693.1:n.-19+237C>T | |
| NM_000600.4:c.94C>T (IL6) | NP_000591.1:p.Pro32Ser | |
| NM_001318095.1:c.-19+237C>T (IL6) | NP_001305024.1:n.-19+237C>T | |
| XM_005249745.5:c.256C>T (IL6) | XP_005249802.1:p.Pro86Ser | |
| XM_011515390.2:c.94C>T (IL6) | XP_011513692.1:p.Pro32Ser | |
| NM_000600.5:c.94C>T (IL6) MANE Select | NP_000591.1:p.Pro32Ser | |
| NM_001318095.2:c.-19+237C>T (IL6) | NP_001305024.1:n.-19+237C>T | |
| NM_001371096.1:c.25C>T (IL6) | NP_001358025.1:p.Pro9Ser |