Linked Data
ClinVar Variation Id:
1510441
ClinVar RCV Id:
RCV002011772
dbSNP Id:
rs2149196136
gnomAD v4:
1-154405676-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154405676C>T , CM000663.2:g.154405676C>T | GRCh38 |
| NC_000001.10:g.154378152C>T , CM000663.1:g.154378152C>T | GRCh37 |
| NC_000001.9:g.152644776C>T | NCBI36 |
| NG_012087.1:g.5484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622330.5:c.47C>T (IL6R) | ENSP00000477739.1:p.Pro16Leu | |
| ENST00000368485.8:c.47C>T (IL6R) MANE Select | ENSP00000357470.3:p.Pro16Leu | |
| ENST00000344086.8:c.47C>T (IL6R) | ENSP00000340589.4:p.Pro16Leu | |
| ENST00000368485.7:c.47C>T (IL6R) | ENSP00000357470.3:p.Pro16Leu | |
| ENST00000512471.1:c.47C>T (IL6R) | ENSP00000423184.1:p.Pro16Leu | |
| ENST00000622330.4:c.47C>T (IL6R) | ENSP00000477739.1:p.Pro16Leu | |
| NM_000565.3:c.47C>T (IL6R) | NP_000556.1:p.Pro16Leu | |
| NM_001206866.1:c.47C>T (IL6R) | NP_001193795.1:p.Pro16Leu | |
| NM_181359.2:c.47C>T (IL6R) | NP_852004.1:p.Pro16Leu | |
| XM_005245139.1:c.47C>T (IL6R) | XP_005245196.1:p.Pro16Leu | |
| XM_005245140.1:c.47C>T (IL6R) | XP_005245197.1:p.Pro16Leu | |
| XM_006711298.1:c.47C>T (IL6R) | XP_006711361.1:p.Pro16Leu | |
| XM_006711299.2:c.47C>T (IL6R) | XP_006711362.1:p.Pro16Leu | |
| XR_241131.2:n.2396+763G>A (IL6R-AS1) | ||
| NR_147855.1:n.126+763G>A (IL6R-AS1) | ||
| XM_005245139.2:c.47C>T (IL6R) | XP_005245196.1:p.Pro16Leu | |
| XM_005245140.3:c.47C>T (IL6R) | XP_005245197.1:p.Pro16Leu | |
| XM_006711298.2:c.47C>T (IL6R) | XP_006711361.1:p.Pro16Leu | |
| XM_006711299.4:c.47C>T (IL6R) | XP_006711362.1:p.Pro16Leu | |
| XM_017001199.2:c.47C>T (IL6R) | XP_016856688.1:p.Pro16Leu | |
| XM_017001200.2:c.47C>T (IL6R) | XP_016856689.1:p.Pro16Leu | |
| XM_017001201.2:c.47C>T (IL6R) | XP_016856690.1:p.Pro16Leu | |
| NM_000565.4:c.47C>T (IL6R) MANE Select | NP_000556.1:p.Pro16Leu | |
| NM_181359.3:c.47C>T (IL6R) | NP_852004.1:p.Pro16Leu | |
| NM_001206866.2:c.47C>T (IL6R) | NP_001193795.1:p.Pro16Leu | |
| NM_001382769.1:c.47C>T (IL6R) | NP_001369698.1:p.Pro16Leu | |
| NM_001382770.1:c.47C>T (IL6R) | NP_001369699.1:p.Pro16Leu | |
| NM_001382771.1:c.47C>T (IL6R) | NP_001369700.1:p.Pro16Leu | |
| NM_001382772.1:c.47C>T (IL6R) | NP_001369701.1:p.Pro16Leu | |
| NM_001382773.1:c.47C>T (IL6R) | NP_001369702.1:p.Pro16Leu | |
| NM_001382774.1:c.47C>T (IL6R) | NP_001369703.1:p.Pro16Leu |