Linked Data
ClinVar Variation Id:
872832
ClinVar RCV Id:
RCV001093504
dbSNP Id:
rs1876627337
ERepo:
CA16020778/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102877542A>C , CM000674.2:g.102877542A>C | GRCh38 |
| NC_000012.11:g.103271320A>C , CM000674.1:g.103271320A>C | GRCh37 |
| NC_000012.10:g.101795450A>C | NCBI36 |
| NG_008690.1:g.45061T>G | |
| NG_008690.2:g.85869T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.361T>G MANE Select | ENSP00000448059.1:p.Phe121Val | |
| ENST00000307000.7:c.346T>G | ENSP00000303500.2:p.Phe116Val | |
| ENST00000549111.5:n.457T>G | ||
| ENST00000550978.6:c.345T>G | ||
| ENST00000551337.5:c.361T>G | ENSP00000447620.1:p.Phe121Val | |
| ENST00000551988.5:n.450T>G | ||
| ENST00000553106.5:c.361T>G | ENSP00000448059.1:p.Phe121Val | |
| NM_000277.1:c.361T>G | NP_000268.1:p.Phe121Val | |
| XM_011538422.1:c.361T>G | XP_011536724.1:p.Phe121Val | |
| NM_000277.2:c.361T>G | NP_000268.1:p.Phe121Val | |
| NM_001354304.1:c.361T>G | NP_001341233.1:p.Phe121Val | |
| XM_017019370.2:c.361T>G | XP_016874859.1:p.Phe121Val | |
| NM_000277.3:c.361T>G MANE Select | NP_000268.1:p.Phe121Val | |
| NM_001354304.2:c.361T>G | NP_001341233.1:p.Phe121Val |