Linked Data
ClinVar Variation Id:
805817
ClinVar RCV Id:
RCV000993634
dbSNP Id:
rs1592978725
ERepo:
CA16020761/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894795A>C , CM000674.2:g.102894795A>C | GRCh38 |
| NC_000012.11:g.103288573A>C , CM000674.1:g.103288573A>C | GRCh37 |
| NC_000012.10:g.101812703A>C | NCBI36 |
| NG_008690.1:g.27808T>G | |
| NG_008690.2:g.68616T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.292T>G MANE Select | ENSP00000448059.1:p.Leu98Val | |
| ENST00000307000.7:c.277T>G | ENSP00000303500.2:p.Leu93Val | |
| ENST00000546844.1:c.292T>G | ENSP00000446658.1:p.Leu98Val | |
| ENST00000548928.1:n.214T>G | ||
| ENST00000549111.5:n.388T>G | ||
| ENST00000550978.6:c.276T>G | ||
| ENST00000551337.5:c.292T>G | ENSP00000447620.1:p.Leu98Val | |
| ENST00000551988.5:n.381T>G | ||
| ENST00000553106.5:c.292T>G | ENSP00000448059.1:p.Leu98Val | |
| NM_000277.1:c.292T>G | NP_000268.1:p.Leu98Val | |
| XM_011538422.1:c.292T>G | XP_011536724.1:p.Leu98Val | |
| NM_000277.2:c.292T>G | NP_000268.1:p.Leu98Val | |
| NM_001354304.1:c.292T>G | NP_001341233.1:p.Leu98Val | |
| XM_017019370.2:c.292T>G | XP_016874859.1:p.Leu98Val | |
| NM_000277.3:c.292T>G MANE Select | NP_000268.1:p.Leu98Val | |
| NM_001354304.2:c.292T>G | NP_001341233.1:p.Leu98Val |