Linked Data
ClinVar Variation Id:
1280356
ClinVar RCV Id:
RCV001695508
dbSNP Id:
rs2073838
gnomAD v2:
5-131649222-G-A
gnomAD v3:
5-132313529-G-A
gnomAD v4:
5-132313529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132313529G>A , CM000667.2:g.132313529G>A | GRCh38 |
| NC_000005.9:g.131649222G>A , CM000667.1:g.131649222G>A | GRCh37 |
| NC_000005.8:g.131677121G>A | NCBI36 |
| NG_012129.1:g.24078G>A | |
| NG_012129.2:g.24078G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000200652.4:c.498-85G>A (SLC22A4) MANE Select | ENSP00000200652.3:n.498-85G>A | |
| ENST00000200652.3:c.498-85G>A (SLC22A4) | ENSP00000200652.3:n.498-85G>A | |
| ENST00000491257.1:n.302-85G>A (SLC22A4) | ||
| NM_003059.2:c.498-85G>A (SLC22A4) | NP_003050.2:n.498-85G>A | |
| NR_110997.1:n.825-1276C>T (MIR3936HG) | ||
| XM_006714675.2:c.-31-85G>A (SLC22A4) | XP_006714738.1:n.-31-85G>A | |
| XM_011543589.1:c.394-85G>A (SLC22A4) | XP_011541891.1:n.394-85G>A | |
| XM_006714675.4:c.-31-85G>A (SLC22A4) | XP_006714738.1:n.-31-85G>A | |
| XM_011543589.2:c.394-85G>A (SLC22A4) | XP_011541891.1:n.394-85G>A | |
| XM_017009776.1:c.-31-85G>A (SLC22A4) | XP_016865265.1:n.-31-85G>A | |
| NM_003059.3:c.498-85G>A (SLC22A4) MANE Select | NP_003050.2:n.498-85G>A |