Linked Data
ClinVar Variation Id:
203703
dbSNP Id:
rs548046212
ExAC:
19:51856529 C / T
gnomAD v2:
19-51856529-C-T
gnomAD v3:
19-51353275-C-T
gnomAD v4:
19-51353275-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51353275C>T , CM000681.2:g.51353275C>T | GRCh38 |
| NC_000019.9:g.51856529C>T , CM000681.1:g.51856529C>T | GRCh37 |
| NC_000019.8:g.56548341C>T | NCBI36 |
| NG_007115.1:g.18144G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309244.9:c.232G>A MANE Select | ENSP00000311930.3:p.Ala78Thr | |
| ENST00000309244.8:c.232G>A | ENSP00000311930.3:p.Ala78Thr | |
| ENST00000354232.8:c.505G>A | ENSP00000346173.3:p.Ala169Thr | |
| ENST00000593992.1:n.255G>A | ||
| ENST00000596253.1:c.216+875G>A | ENSP00000469628.1:n.216+875G>A | |
| ENST00000600067.1:c.*158G>A | ENSP00000469452.1:n.*158G>A | |
| NM_001014763.1:c.505G>A | NP_001014763.1:p.Ala169Thr | |
| NM_001985.2:c.232G>A | NP_001976.1:p.Ala78Thr | |
| XM_024451418.1:c.121G>A | XP_024307186.1:p.Ala41Thr | |
| NM_001985.3:c.232G>A MANE Select | NP_001976.1:p.Ala78Thr |