Linked Data
ClinVar Variation Id:
987913
ClinVar RCV Id:
RCV001269322
dbSNP Id:
rs1874541064
ERepo:
CA16020980/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840469G>T , CM000674.2:g.102840469G>T | GRCh38 |
| NC_000012.11:g.103234247G>T , CM000674.1:g.103234247G>T | GRCh37 |
| NC_000012.10:g.101758377G>T | NCBI36 |
| NG_008690.1:g.82134C>A | |
| NG_008690.2:g.122942C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1246C>A MANE Select | ENSP00000448059.1:p.Pro416Thr | |
| ENST00000307000.7:c.1231C>A | ENSP00000303500.2:p.Pro411Thr | |
| ENST00000551114.2:n.908C>A | ||
| ENST00000553106.5:c.1246C>A | ENSP00000448059.1:p.Pro416Thr | |
| ENST00000635477.1:c.350C>A | ||
| ENST00000635528.1:n.761C>A | ||
| NM_000277.1:c.1246C>A | NP_000268.1:p.Pro416Thr | |
| XM_011538422.1:c.1189C>A | XP_011536724.1:p.Pro397Thr | |
| NM_000277.2:c.1246C>A | NP_000268.1:p.Pro416Thr | |
| NM_001354304.1:c.1246C>A | NP_001341233.1:p.Pro416Thr | |
| NM_000277.3:c.1246C>A MANE Select | NP_000268.1:p.Pro416Thr | |
| NM_001354304.2:c.1246C>A | NP_001341233.1:p.Pro416Thr |