Linked Data
ClinVar Variation Id:
459959
dbSNP Id:
rs200186078
ExAC:
19:51850174 C / T
gnomAD v2:
19-51850174-C-T
gnomAD v3:
19-51346920-C-T
gnomAD v4:
19-51346920-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51346920C>T , CM000681.2:g.51346920C>T | GRCh38 |
| NC_000019.9:g.51850174C>T , CM000681.1:g.51850174C>T | GRCh37 |
| NC_000019.8:g.56541986C>T | NCBI36 |
| NG_007115.1:g.24499G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309244.9:c.577G>A MANE Select | ENSP00000311930.3:p.Ala193Thr | |
| ENST00000309244.8:c.577G>A | ENSP00000311930.3:p.Ala193Thr | |
| ENST00000354232.8:c.850G>A | ENSP00000346173.3:p.Ala284Thr | |
| ENST00000594361.1:n.1611G>A | ||
| ENST00000596253.1:c.418G>A | ENSP00000469628.1:p.Ala140Thr | |
| NM_001014763.1:c.850G>A | NP_001014763.1:p.Ala284Thr | |
| NM_001985.2:c.577G>A | NP_001976.1:p.Ala193Thr | |
| XM_024451418.1:c.466G>A | XP_024307186.1:p.Ala156Thr | |
| NM_001985.3:c.577G>A MANE Select | NP_001976.1:p.Ala193Thr |