Linked Data
dbSNP Id:
rs1342666394
gnomAD v2:
5-131676301-G-C
gnomAD v3:
5-132340608-G-C
gnomAD v4:
5-132340608-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132340608G>C , CM000667.2:g.132340608G>C | GRCh38 |
| NC_000005.9:g.131676301G>C , CM000667.1:g.131676301G>C | GRCh37 |
| NC_000005.8:g.131704200G>C | NCBI36 |
| NG_012129.1:g.51157G>C | |
| NG_012129.2:g.51157G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200652.4:c.1488G>C (SLC22A4) MANE Select | ENSP00000200652.3:p.Leu496= | |
| ENST00000200652.3:c.1488G>C (SLC22A4) | ENSP00000200652.3:p.Leu496= | |
| NM_003059.2:c.1488G>C (SLC22A4) | NP_003050.2:p.Leu496= | |
| NR_110997.1:n.561-5682C>G (MIR3936HG) | ||
| XM_006714675.2:c.960G>C (SLC22A4) | XP_006714738.1:p.Leu320= | |
| XM_011543589.1:c.1212G>C (SLC22A4) | XP_011541891.1:p.Leu404= | |
| XM_006714675.4:c.960G>C (SLC22A4) | XP_006714738.1:p.Leu320= | |
| XM_011543589.2:c.1212G>C (SLC22A4) | XP_011541891.1:p.Leu404= | |
| XM_017009776.1:c.960G>C (SLC22A4) | XP_016865265.1:p.Leu320= | |
| NM_003059.3:c.1488G>C (SLC22A4) MANE Select | NP_003050.2:p.Leu496= |