COSMIC:
COSM3765563 (not active)
Revel Score:
ENST00000347936
0.027
ENST00000312221
0.027
ENST00000449793
0.027
ENST00000380574
0.027
ENST00000485423
0.027
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72457791 (EAS)
Genomes Max Group AF
0.74118131 (EAS)
Exomes Max Group AF
0.72030298 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2903380G>A , CM000673.2:g.2903380G>A | GRCh38 |
| NC_000011.9:g.2924610G>A , CM000673.1:g.2924610G>A | GRCh37 |
| NC_000011.8:g.2881186G>A | NCBI36 |
| NG_011512.1:g.8660G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625099.4:c.-216+79C>T (SLC22A18AS) | ENSP00000487968.1:n.-216+79C>T | |
| ENST00000649076.2:c.35G>A (SLC22A18) MANE Select | ENSP00000497561.1:p.Arg12Gln | |
| ENST00000312221.9:c.35G>A (SLC22A18) | ENSP00000311139.5:p.Arg12Gln | |
| ENST00000347936.6:c.35G>A (SLC22A18) | ENSP00000307859.2:p.Arg12Gln | |
| ENST00000380574.5:c.35G>A (SLC22A18) | ENSP00000369948.1:p.Arg12Gln | |
| ENST00000449793.6:c.35G>A (SLC22A18) | ENSP00000392072.2:p.Arg12Gln | |
| ENST00000455942.3:c.-130+79C>T (SLC22A18AS) | ENSP00000488024.1:n.-130+79C>T | |
| ENST00000485423.1:c.35G>A (SLC22A18) | ENSP00000433019.1:p.Arg12Gln | |
| ENST00000492567.2:n.5G>A (SLC22A18) | ||
| ENST00000625099.3:c.-216+79C>T (SLC22A18AS) | ENSP00000487968.1:n.-216+79C>T | |
| NM_001302862.1:c.-130+79C>T (SLC22A18AS) | NP_001289791.1:n.-130+79C>T | |
| NM_001315501.1:c.290G>A (SLC22A18) | NP_001302430.1:p.Arg97Gln | |
| NM_001315502.1:c.35G>A (SLC22A18) | NP_001302431.1:p.Arg12Gln | |
| NM_002555.5:c.35G>A (SLC22A18) | NP_002546.3:p.Arg12Gln | |
| NM_007105.3:c.-216+79C>T (SLC22A18AS) | NP_009036.2:n.-216+79C>T | |
| NM_183233.2:c.35G>A (SLC22A18) | NP_899056.2:p.Arg12Gln | |
| XM_006718243.2:c.35G>A (SLC22A18) | XP_006718306.1:p.Arg12Gln | |
| XM_011520140.1:c.233G>A (SLC22A18) | XP_011518442.1:p.Arg78Gln | |
| XM_011520141.1:c.35G>A (SLC22A18) | XP_011518443.1:p.Arg12Gln | |
| XM_011520142.1:c.35G>A (SLC22A18) | XP_011518444.1:p.Arg12Gln | |
| XM_011520141.2:c.290G>A (SLC22A18) | XP_011518443.2:p.Arg97Gln | |
| XM_011520142.2:c.290G>A (SLC22A18) | XP_011518444.2:p.Arg97Gln | |
| XM_017017832.1:c.165+79C>T (SLC22A18AS) | XP_016873321.1:n.165+79C>T | |
| XM_017017833.1:c.-276+79C>T (SLC22A18AS) | XP_016873322.1:n.-276+79C>T | |
| XM_017017834.1:c.-4+415C>T (SLC22A18AS) | XP_016873323.1:n.-4+415C>T | |
| NM_001302862.2:c.-130+79C>T (SLC22A18AS) | NP_001289791.1:n.-130+79C>T | |
| NM_001315502.2:c.35G>A (SLC22A18) | NP_001302431.1:p.Arg12Gln | |
| NM_002555.6:c.35G>A (SLC22A18) MANE Select | NP_002546.3:p.Arg12Gln | |
| NM_007105.4:c.-216+79C>T (SLC22A18AS) | NP_009036.2:n.-216+79C>T | |
| NM_183233.3:c.35G>A (SLC22A18) | NP_899056.2:p.Arg12Gln | |
| NM_001315501.2:c.290G>A (SLC22A18) | NP_001302430.1:p.Arg97Gln | |
| NR_169304.1:n.117+79C>T (SLC22A18AS) | ||
| NR_169305.1:n.117+79C>T (SLC22A18AS) |