gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74727884 (AFR)
Genomes Max Group AF
0.74727884 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132325463T>C , CM000667.2:g.132325463T>C | GRCh38 |
| NC_000005.9:g.131661156T>C , CM000667.1:g.131661156T>C | GRCh37 |
| NC_000005.8:g.131689055T>C | NCBI36 |
| NG_012129.1:g.36012T>C | |
| NG_012129.2:g.36012T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200652.4:c.825-1814T>C (SLC22A4) MANE Select | ENSP00000200652.3:n.825-1814T>C | |
| ENST00000200652.3:c.825-1814T>C (SLC22A4) | ENSP00000200652.3:n.825-1814T>C | |
| ENST00000425923.1:n.354+821T>C (SLC22A4) | ||
| NM_003059.2:c.825-1814T>C (SLC22A4) | NP_003050.2:n.825-1814T>C | |
| NR_110997.1:n.824+6726A>G (MIR3936HG) | ||
| XM_006714675.2:c.297-1814T>C (SLC22A4) | XP_006714738.1:n.297-1814T>C | |
| XM_011543589.1:c.549-1814T>C (SLC22A4) | XP_011541891.1:n.549-1814T>C | |
| XM_006714675.4:c.297-1814T>C (SLC22A4) | XP_006714738.1:n.297-1814T>C | |
| XM_011543589.2:c.549-1814T>C (SLC22A4) | XP_011541891.1:n.549-1814T>C | |
| XM_017009776.1:c.297-1814T>C (SLC22A4) | XP_016865265.1:n.297-1814T>C | |
| NM_003059.3:c.825-1814T>C (SLC22A4) MANE Select | NP_003050.2:n.825-1814T>C |