gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000435 (EAS)
Exomes Max Group AF
0.00003351 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132340527C>T , CM000667.2:g.132340527C>T | GRCh38 |
| NC_000005.9:g.131676220C>T , CM000667.1:g.131676220C>T | GRCh37 |
| NC_000005.8:g.131704119C>T | NCBI36 |
| NG_012129.1:g.51076C>T | |
| NG_012129.2:g.51076C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200652.4:c.1445-38C>T (SLC22A4) MANE Select | ENSP00000200652.3:n.1445-38C>T | |
| ENST00000200652.3:c.1445-38C>T (SLC22A4) | ENSP00000200652.3:n.1445-38C>T | |
| NM_003059.2:c.1445-38C>T (SLC22A4) | NP_003050.2:n.1445-38C>T | |
| NR_110997.1:n.561-5601G>A (MIR3936HG) | ||
| XM_006714675.2:c.917-38C>T (SLC22A4) | XP_006714738.1:n.917-38C>T | |
| XM_011543589.1:c.1169-38C>T (SLC22A4) | XP_011541891.1:n.1169-38C>T | |
| XM_006714675.4:c.917-38C>T (SLC22A4) | XP_006714738.1:n.917-38C>T | |
| XM_011543589.2:c.1169-38C>T (SLC22A4) | XP_011541891.1:n.1169-38C>T | |
| XM_017009776.1:c.917-38C>T (SLC22A4) | XP_016865265.1:n.917-38C>T | |
| NM_003059.3:c.1445-38C>T (SLC22A4) MANE Select | NP_003050.2:n.1445-38C>T |