Linked Data
ClinVar Variation Id:
213096
ClinVar RCV Id:
RCV003593935
dbSNP Id:
rs780495441
ExAC:
2:189931187 C / T
gnomAD v2:
2-189931187-C-T
gnomAD v3:
2-189066461-C-T
gnomAD v4:
2-189066461-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189066461C>T , CM000664.2:g.189066461C>T | GRCh38 |
| NC_000002.11:g.189931187C>T , CM000664.1:g.189931187C>T | GRCh37 |
| NC_000002.10:g.189639432C>T | NCBI36 |
| NG_011799.1:g.118419G>A | |
| NG_011799.2:g.118419G>A | |
| NG_011799.3:g.163841G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374866.9:c.1492G>A MANE Select | ENSP00000364000.3:p.Gly498Ser | |
| ENST00000374866.7:c.1492G>A | ENSP00000364000.3:p.Gly498Ser | |
| ENST00000618828.1:c.359-28G>A | ENSP00000482184.1:n.359-28G>A | |
| NM_000393.3:c.1492G>A | NP_000384.2:p.Gly498Ser | |
| XM_011510573.1:c.1354G>A | XP_011508875.1:p.Gly452Ser | |
| NM_000393.4:c.1492G>A | NP_000384.2:p.Gly498Ser | |
| XM_011510573.3:c.1354G>A | XP_011508875.1:p.Gly452Ser | |
| NM_000393.5:c.1492G>A MANE Select | NP_000384.2:p.Gly498Ser |