Linked Data
ClinVar Variation Id:
1086136
ClinVar RCV Id:
RCV001403822
dbSNP Id:
rs1220388430
gnomAD v2:
1-206944333-C-T
gnomAD v3:
1-206770988-C-T
gnomAD v4:
1-206770988-C-T
COSMIC:
COSM3789406
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206770988C>T , CM000663.2:g.206770988C>T | GRCh38 |
| NC_000001.10:g.206944333C>T , CM000663.1:g.206944333C>T | GRCh37 |
| NC_000001.9:g.205010956C>T | NCBI36 |
| NG_012088.1:g.6507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367099.4:n.202G>A (IL10) | ||
| ENST00000471071.2:c.42G>A (IL10) | ENSP00000493073.2:p.Glu14= | |
| ENST00000659065.2:c.180G>A (IL10) | ENSP00000499588.1:p.Glu60= | |
| ENST00000659642.2:c.180G>A (IL10) | ENSP00000499509.1:p.Glu60= | |
| ENST00000664374.2:c.180G>A (IL10) | ENSP00000499664.1:p.Glu60= | |
| ENST00000659997.3:c.-239C>T (IL19) MANE Select | ENSP00000499459.2:n.-239C>T | |
| ENST00000656872.2:c.-149+158C>T (IL19) | ENSP00000499487.2:n.-149+158C>T | |
| ENST00000659065.1:c.180G>A (IL10) | ENSP00000499588.1:p.Glu60= | |
| ENST00000659642.1:c.180G>A (IL10) | ENSP00000499509.1:p.Glu60= | |
| ENST00000659997.2:c.-239C>T (IL19) | ENSP00000499459.2:n.-239C>T | |
| ENST00000662320.1:n.67+158C>T (IL19) | ||
| ENST00000664374.1:c.180G>A (IL10) | ENSP00000499664.1:p.Glu60= | |
| ENST00000367099.3:n.202G>A (IL10) | ||
| ENST00000423557.1:c.297G>A (IL10) MANE Select | ENSP00000412237.1:p.Glu99= | |
| ENST00000471071.1:n.212G>A (IL10) | ||
| NM_000572.2:c.297G>A (IL10) | NP_000563.1:p.Glu99= | |
| XM_011509506.1:c.297G>A (IL10) | XP_011507808.1:p.Glu99= | |
| NM_000572.3:c.297G>A (IL10) MANE Select | NP_000563.1:p.Glu99= | |
| NM_153758.3:c.-125C>T (IL19) | NP_715639.1:n.-125C>T | |
| NM_001382624.1:c.42G>A (IL10) | NP_001369553.1:p.Glu14= | |
| NM_001393490.1:c.-149+158C>T (IL19) | NP_001380419.1:n.-149+158C>T | |
| NM_153758.5:c.-239C>T (IL19) MANE Select | NP_715639.2:n.-239C>T | |
| NR_168466.1:n.356G>A (IL10) |