gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1835246 (SAS)
Genomes Max Group AF
0.17806987 (SAS)
Exomes Max Group AF
0.18329425 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132331660A>G , CM000667.2:g.132331660A>G | GRCh38 |
| NC_000005.9:g.131667353A>G , CM000667.1:g.131667353A>G | GRCh37 |
| NC_000005.8:g.131695252A>G | NCBI36 |
| NG_012129.1:g.42209A>G | |
| NG_012129.2:g.42209A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200652.4:c.952-96A>G (SLC22A4) MANE Select | ENSP00000200652.3:n.952-96A>G | |
| ENST00000200652.3:c.952-96A>G (SLC22A4) | ENSP00000200652.3:n.952-96A>G | |
| NM_003059.2:c.952-96A>G (SLC22A4) | NP_003050.2:n.952-96A>G | |
| NR_110997.1:n.824+529T>C (MIR3936HG) | ||
| XM_006714675.2:c.424-96A>G (SLC22A4) | XP_006714738.1:n.424-96A>G | |
| XM_011543589.1:c.676-96A>G (SLC22A4) | XP_011541891.1:n.676-96A>G | |
| XM_006714675.4:c.424-96A>G (SLC22A4) | XP_006714738.1:n.424-96A>G | |
| XM_011543589.2:c.676-96A>G (SLC22A4) | XP_011541891.1:n.676-96A>G | |
| XM_017009776.1:c.424-96A>G (SLC22A4) | XP_016865265.1:n.424-96A>G | |
| NM_003059.3:c.952-96A>G (SLC22A4) MANE Select | NP_003050.2:n.952-96A>G |