Linked Data
ClinVar Variation Id:
2323111
ClinVar RCV Id:
RCV004168971
dbSNP Id:
rs373520579
ExAC:
5:131649438 A / G
gnomAD v2:
5-131649438-A-G
gnomAD v3:
5-132313745-A-G
gnomAD v4:
5-132313745-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132313745A>G , CM000667.2:g.132313745A>G | GRCh38 |
| NC_000005.9:g.131649438A>G , CM000667.1:g.131649438A>G | GRCh37 |
| NC_000005.8:g.131677337A>G | NCBI36 |
| NG_012129.1:g.24294A>G | |
| NG_012129.2:g.24294A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200652.4:c.629A>G (SLC22A4) MANE Select | ENSP00000200652.3:p.Asn210Ser | |
| ENST00000200652.3:c.629A>G (SLC22A4) | ENSP00000200652.3:p.Asn210Ser | |
| ENST00000491257.1:n.433A>G (SLC22A4) | ||
| NM_003059.2:c.629A>G (SLC22A4) | NP_003050.2:p.Asn210Ser | |
| NR_110997.1:n.825-1492T>C (MIR3936HG) | ||
| XM_006714675.2:c.101A>G (SLC22A4) | XP_006714738.1:p.Asn34Ser | |
| XM_011543589.1:c.525A>G (SLC22A4) | XP_011541891.1:p.Gln175= | |
| XM_006714675.4:c.101A>G (SLC22A4) | XP_006714738.1:p.Asn34Ser | |
| XM_011543589.2:c.525A>G (SLC22A4) | XP_011541891.1:p.Gln175= | |
| XM_017009776.1:c.101A>G (SLC22A4) | XP_016865265.1:p.Asn34Ser | |
| NM_003059.3:c.629A>G (SLC22A4) MANE Select | NP_003050.2:p.Asn210Ser |