Linked Data
ClinVar Variation Id:
1107004
ClinVar RCV Id:
RCV001431970
dbSNP Id:
rs560908141
ExAC:
1:206944309 C / T
gnomAD v2:
1-206944309-C-T
gnomAD v3:
1-206770964-C-T
gnomAD v4:
1-206770964-C-T
COSMIC:
COSM209675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206770964C>T , CM000663.2:g.206770964C>T | GRCh38 |
| NC_000001.10:g.206944309C>T , CM000663.1:g.206944309C>T | GRCh37 |
| NC_000001.9:g.205010932C>T | NCBI36 |
| NG_012088.1:g.6531G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367099.4:n.226G>A (IL10) | ||
| ENST00000471071.2:c.66G>A (IL10) | ENSP00000493073.2:p.Ala22= | |
| ENST00000659065.2:c.204G>A (IL10) | ENSP00000499588.1:p.Ala68= | |
| ENST00000659642.2:c.204G>A (IL10) | ENSP00000499509.1:p.Ala68= | |
| ENST00000664374.2:c.204G>A (IL10) | ENSP00000499664.1:p.Ala68= | |
| ENST00000659997.3:c.-263C>T (IL19) MANE Select | ENSP00000499459.2:n.-263C>T | |
| ENST00000656872.2:c.-149+134C>T (IL19) | ENSP00000499487.2:n.-149+134C>T | |
| ENST00000659065.1:c.204G>A (IL10) | ENSP00000499588.1:p.Ala68= | |
| ENST00000659642.1:c.204G>A (IL10) | ENSP00000499509.1:p.Ala68= | |
| ENST00000659997.2:c.-263C>T (IL19) | ENSP00000499459.2:n.-263C>T | |
| ENST00000662320.1:n.67+134C>T (IL19) | ||
| ENST00000664374.1:c.204G>A (IL10) | ENSP00000499664.1:p.Ala68= | |
| ENST00000367099.3:n.226G>A (IL10) | ||
| ENST00000423557.1:c.321G>A (IL10) MANE Select | ENSP00000412237.1:p.Ala107= | |
| ENST00000471071.1:n.236G>A (IL10) | ||
| NM_000572.2:c.321G>A (IL10) | NP_000563.1:p.Ala107= | |
| XM_011509506.1:c.321G>A (IL10) | XP_011507808.1:p.Ala107= | |
| NM_000572.3:c.321G>A (IL10) MANE Select | NP_000563.1:p.Ala107= | |
| NM_153758.3:c.-149C>T (IL19) | NP_715639.1:n.-149C>T | |
| NM_001382624.1:c.66G>A (IL10) | NP_001369553.1:p.Ala22= | |
| NM_001393490.1:c.-149+134C>T (IL19) | NP_001380419.1:n.-149+134C>T | |
| NM_153758.5:c.-263C>T (IL19) MANE Select | NP_715639.2:n.-263C>T | |
| NR_168466.1:n.380G>A (IL10) |