Linked Data
ClinVar Variation Id:
805281
ClinVar RCV Id:
RCV000992767
dbSNP Id:
rs12777
ExAC:
5:131671662 C / G
gnomAD v2:
5-131671662-C-G
gnomAD v3:
5-132335969-C-G
gnomAD v4:
5-132335969-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132335969C>G , CM000667.2:g.132335969C>G | GRCh38 |
| NC_000005.9:g.131671662C>G , CM000667.1:g.131671662C>G | GRCh37 |
| NC_000005.8:g.131699561C>G | NCBI36 |
| NG_012129.1:g.46518C>G | |
| NG_012129.2:g.46518C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000200652.4:c.1413C>G (SLC22A4) MANE Select | ENSP00000200652.3:p.Gly471= | |
| ENST00000200652.3:c.1413C>G (SLC22A4) | ENSP00000200652.3:p.Gly471= | |
| NM_003059.2:c.1413C>G (SLC22A4) | NP_003050.2:p.Gly471= | |
| NR_110997.1:n.561-1043G>C (MIR3936HG) | ||
| XM_006714675.2:c.885C>G (SLC22A4) | XP_006714738.1:p.Gly295= | |
| XM_011543589.1:c.1137C>G (SLC22A4) | XP_011541891.1:p.Gly379= | |
| XM_006714675.4:c.885C>G (SLC22A4) | XP_006714738.1:p.Gly295= | |
| XM_011543589.2:c.1137C>G (SLC22A4) | XP_011541891.1:p.Gly379= | |
| XM_017009776.1:c.885C>G (SLC22A4) | XP_016865265.1:p.Gly295= | |
| NM_003059.3:c.1413C>G (SLC22A4) MANE Select | NP_003050.2:p.Gly471= |