Linked Data
ClinVar Variation Id:
1641485
ClinVar RCV Id:
RCV002140164
dbSNP Id:
rs1674815134
gnomAD v4:
1-206771012-C-T
MyVariant Identifiers:
chr1:g.206944357C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206771012C>T , CM000663.2:g.206771012C>T | GRCh38 |
| NC_000001.10:g.206944357C>T , CM000663.1:g.206944357C>T | GRCh37 |
| NC_000001.9:g.205010980C>T | NCBI36 |
| NG_012088.1:g.6483G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367099.4:n.178G>A (IL10) | ||
| ENST00000471071.2:c.18G>A (IL10) | ENSP00000493073.2:p.Leu6= | |
| ENST00000659065.2:c.156G>A (IL10) | ENSP00000499588.1:p.Leu52= | |
| ENST00000659642.2:c.156G>A (IL10) | ENSP00000499509.1:p.Leu52= | |
| ENST00000664374.2:c.156G>A (IL10) | ENSP00000499664.1:p.Leu52= | |
| ENST00000659997.3:c.-215C>T (IL19) MANE Select | ENSP00000499459.2:n.-215C>T | |
| ENST00000656872.2:c.-149+182C>T (IL19) | ENSP00000499487.2:n.-149+182C>T | |
| ENST00000659065.1:c.156G>A (IL10) | ENSP00000499588.1:p.Leu52= | |
| ENST00000659642.1:c.156G>A (IL10) | ENSP00000499509.1:p.Leu52= | |
| ENST00000659997.2:c.-215C>T (IL19) | ENSP00000499459.2:n.-215C>T | |
| ENST00000662320.1:n.67+182C>T (IL19) | ||
| ENST00000664374.1:c.156G>A (IL10) | ENSP00000499664.1:p.Leu52= | |
| ENST00000367099.3:n.178G>A (IL10) | ||
| ENST00000423557.1:c.273G>A (IL10) MANE Select | ENSP00000412237.1:p.Leu91= | |
| ENST00000471071.1:n.188G>A (IL10) | ||
| NM_000572.2:c.273G>A (IL10) | NP_000563.1:p.Leu91= | |
| XM_011509506.1:c.273G>A (IL10) | XP_011507808.1:p.Leu91= | |
| NM_000572.3:c.273G>A (IL10) MANE Select | NP_000563.1:p.Leu91= | |
| NM_153758.3:c.-101C>T (IL19) | NP_715639.1:n.-101C>T | |
| NM_001382624.1:c.18G>A (IL10) | NP_001369553.1:p.Leu6= | |
| NM_001393490.1:c.-149+182C>T (IL19) | NP_001380419.1:n.-149+182C>T | |
| NM_153758.5:c.-215C>T (IL19) MANE Select | NP_715639.2:n.-215C>T | |
| NR_168466.1:n.332G>A (IL10) |