gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98926392 (EAS)
Genomes Max Group AF
0.97429452 (EAS)
Exomes Max Group AF
0.98867316 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132369766C>G , CM000667.2:g.132369766C>G | GRCh38 |
| NC_000005.9:g.131705458C>G , CM000667.1:g.131705458C>G | GRCh37 |
| NC_000005.8:g.131733357C>G | NCBI36 |
| NG_008982.1:g.5058C>G | |
| NG_008982.2:g.5063C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245407.8:c.-207C>G (SLC22A5) MANE Select | ENSP00000245407.3:n.-207C>G | |
| ENST00000245407.7:c.-207C>G (SLC22A5) | ENSP00000245407.3:n.-207C>G | |
| NM_001308122.1:c.-207C>G (SLC22A5) | NP_001295051.1:n.-207C>G | |
| NM_003060.3:c.-207C>G (SLC22A5) | NP_003051.1:n.-207C>G | |
| NR_110997.1:n.73+78G>C (MIR3936HG) | ||
| XR_427718.1:n.63C>G (SLC22A5) | ||
| XR_948290.1:n.63C>G (SLC22A5) | ||
| XR_948291.1:n.63C>G (SLC22A5) | ||
| XR_001742215.1:n.63C>G (SLC22A5) | ||
| XR_001742216.1:n.63C>G (SLC22A5) | ||
| XR_427718.2:n.63C>G (SLC22A5) | ||
| XR_948290.2:n.63C>G (SLC22A5) | ||
| XR_948291.2:n.63C>G (SLC22A5) | ||
| NM_003060.4:c.-207C>G (SLC22A5) MANE Select | NP_003051.1:n.-207C>G | |
| NM_001308122.2:c.-207C>G (SLC22A5) | NP_001295051.1:n.-207C>G |