Linked Data
ClinVar Variation Id:
2196403
ClinVar RCV Id:
RCV002633644
dbSNP Id:
rs774596254
ExAC:
2:189927614 G / T
gnomAD v2:
2-189927614-G-T
gnomAD v4:
2-189062888-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062888G>T , CM000664.2:g.189062888G>T | GRCh38 |
| NC_000002.11:g.189927614G>T , CM000664.1:g.189927614G>T | GRCh37 |
| NC_000002.10:g.189635859G>T | NCBI36 |
| NG_011799.1:g.121992C>A | |
| NG_011799.2:g.121992C>A | |
| NG_011799.3:g.167414C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1954C>A MANE Select | ENSP00000364000.3:p.Pro652Thr | |
| ENST00000374866.7:c.1954C>A | ENSP00000364000.3:p.Pro652Thr | |
| ENST00000470524.2:n.60C>A | ||
| ENST00000618828.1:c.793C>A | ENSP00000482184.1:p.Pro265Thr | |
| NM_000393.3:c.1954C>A | NP_000384.2:p.Pro652Thr | |
| XM_011510573.1:c.1816C>A | XP_011508875.1:p.Pro606Thr | |
| NM_000393.4:c.1954C>A | NP_000384.2:p.Pro652Thr | |
| XM_011510573.3:c.1816C>A | XP_011508875.1:p.Pro606Thr | |
| NM_000393.5:c.1954C>A MANE Select | NP_000384.2:p.Pro652Thr |