Linked Data
ClinVar Variation Id:
840233
ClinVar RCV Id:
RCV002239328
dbSNP Id:
rs1686065578
gnomAD v4:
2-189062870-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062870G>A , CM000664.2:g.189062870G>A | GRCh38 |
| NC_000002.11:g.189927596G>A , CM000664.1:g.189927596G>A | GRCh37 |
| NC_000002.10:g.189635841G>A | NCBI36 |
| NG_011799.1:g.122010C>T | |
| NG_011799.2:g.122010C>T | |
| NG_011799.3:g.167432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1972C>T MANE Select | ENSP00000364000.3:p.Pro658Ser | |
| ENST00000374866.7:c.1972C>T | ENSP00000364000.3:p.Pro658Ser | |
| ENST00000470524.2:n.78C>T | ||
| ENST00000618828.1:c.811C>T | ENSP00000482184.1:p.Pro271Ser | |
| NM_000393.3:c.1972C>T | NP_000384.2:p.Pro658Ser | |
| XM_011510573.1:c.1834C>T | XP_011508875.1:p.Pro612Ser | |
| NM_000393.4:c.1972C>T | NP_000384.2:p.Pro658Ser | |
| XM_011510573.3:c.1834C>T | XP_011508875.1:p.Pro612Ser | |
| NM_000393.5:c.1972C>T MANE Select | NP_000384.2:p.Pro658Ser |