COSMIC:
COSM3757551 (not active)
Revel Score:
ENST00000233954 (MANE Select)
0.028
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70178882 (AFR)
Genomes Max Group AF
0.69461733 (AFR)
Exomes Max Group AF
0.70600302 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102351752A>G , CM000664.2:g.102351752A>G | GRCh38 |
| NC_000002.11:g.102968212A>G , CM000664.1:g.102968212A>G | GRCh37 |
| NC_000002.10:g.102334644A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233954.6:c.1502A>G (IL1RL1) MANE Select | ENSP00000233954.1:p.Gln501Arg | |
| ENST00000233954.5:c.1502A>G (IL1RL1) | ENSP00000233954.1:p.Gln501Arg | |
| ENST00000410040.5:c.-28-10881A>G (IL18R1) | ENSP00000386663.1:n.-28-10881A>G | |
| NM_016232.4:c.1502A>G (IL1RL1) | NP_057316.3:p.Gln501Arg | |
| XM_006712839.2:c.1502A>G (IL1RL1) | XP_006712902.1:p.Gln501Arg | |
| XM_006712839.3:c.1502A>G (IL1RL1) | XP_006712902.1:p.Gln501Arg | |
| NM_016232.5:c.1502A>G (IL1RL1) MANE Select | NP_057316.3:p.Gln501Arg |