Linked Data
ClinVar Variation Id:
872835
ClinVar RCV Id:
RCV001093510
dbSNP Id:
rs1874691554
ERepo:
CA16020948/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843699G>C , CM000674.2:g.102843699G>C | GRCh38 |
| NC_000012.11:g.103237477G>C , CM000674.1:g.103237477G>C | GRCh37 |
| NC_000012.10:g.101761607G>C | NCBI36 |
| NG_008690.1:g.78904C>G | |
| NG_008690.2:g.119712C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1146C>G MANE Select | ENSP00000448059.1:p.Phe382Leu | |
| ENST00000307000.7:c.1131C>G | ENSP00000303500.2:p.Phe377Leu | |
| ENST00000549247.6:n.905C>G | ||
| ENST00000551114.2:n.808C>G | ||
| ENST00000553106.5:c.1146C>G | ENSP00000448059.1:p.Phe382Leu | |
| ENST00000635477.1:c.250C>G | ||
| ENST00000635528.1:n.661C>G | ||
| NM_000277.1:c.1146C>G | NP_000268.1:p.Phe382Leu | |
| XM_011538422.1:c.1089C>G | XP_011536724.1:p.Phe363Leu | |
| NM_000277.2:c.1146C>G | NP_000268.1:p.Phe382Leu | |
| NM_001354304.1:c.1146C>G | NP_001341233.1:p.Phe382Leu | |
| NM_000277.3:c.1146C>G MANE Select | NP_000268.1:p.Phe382Leu | |
| NM_001354304.2:c.1146C>G | NP_001341233.1:p.Phe382Leu |