Linked Data
ClinVar Variation Id:
2996879
ClinVar RCV Id:
RCV003859014
dbSNP Id:
rs148604311
ExAC:
5:131649443 G / A
gnomAD v2:
5-131649443-G-A
gnomAD v3:
5-132313750-G-A
gnomAD v4:
5-132313750-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132313750G>A , CM000667.2:g.132313750G>A | GRCh38 |
| NC_000005.9:g.131649443G>A , CM000667.1:g.131649443G>A | GRCh37 |
| NC_000005.8:g.131677342G>A | NCBI36 |
| NG_012129.1:g.24299G>A | |
| NG_012129.2:g.24299G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200652.4:c.634G>A (SLC22A4) MANE Select | ENSP00000200652.3:p.Val212Met | |
| ENST00000200652.3:c.634G>A (SLC22A4) | ENSP00000200652.3:p.Val212Met | |
| ENST00000491257.1:n.438G>A (SLC22A4) | ||
| NM_003059.2:c.634G>A (SLC22A4) | NP_003050.2:p.Val212Met | |
| NR_110997.1:n.825-1497C>T (MIR3936HG) | ||
| XM_006714675.2:c.106G>A (SLC22A4) | XP_006714738.1:p.Val36Met | |
| XM_011543589.1:c.530G>A (SLC22A4) | XP_011541891.1:p.Cys177Tyr | |
| XM_006714675.4:c.106G>A (SLC22A4) | XP_006714738.1:p.Val36Met | |
| XM_011543589.2:c.530G>A (SLC22A4) | XP_011541891.1:p.Cys177Tyr | |
| XM_017009776.1:c.106G>A (SLC22A4) | XP_016865265.1:p.Val36Met | |
| NM_003059.3:c.634G>A (SLC22A4) MANE Select | NP_003050.2:p.Val212Met |