Linked Data
ClinVar Variation Id:
261031
dbSNP Id:
rs183578654
ExAC:
20:62679873 C / T
gnomAD v2:
20-62679873-C-T
gnomAD v3:
20-64048520-C-T
gnomAD v4:
20-64048520-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.64048520C>T , CM000682.2:g.64048520C>T | GRCh38 |
| NC_000020.10:g.62679873C>T , CM000682.1:g.62679873C>T | GRCh37 |
| NC_000020.9:g.62150317C>T | NCBI36 |
| NG_008095.1:g.6107G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340356.9:c.801G>A (SOX18) MANE Select | ENSP00000341815.7:p.Ala267= | |
| ENST00000340356.8:c.801G>A (SOX18) | ENSP00000341815.7:p.Ala267= | |
| ENST00000450537.5:c.-6+185G>A (ZNF512B) | ENSP00000393795.1:n.-6+185G>A | |
| NM_018419.2:c.801G>A (SOX18) | NP_060889.1:p.Ala267= | |
| XM_011529022.1:c.-2320+6125C>T (TCEA2) | XP_011527324.1:n.-2320+6125C>T | |
| XM_011529025.1:c.-2236+6125C>T (TCEA2) | XP_011527327.1:n.-2236+6125C>T | |
| XM_024451978.1:c.-2236+6125C>T (TCEA2) | XP_024307746.1:n.-2236+6125C>T | |
| NM_018419.3:c.801G>A (SOX18) MANE Select | NP_060889.1:p.Ala267= |