Linked Data
ClinVar Variation Id:
619149
ClinVar RCV Id:
RCV000758095
dbSNP Id:
rs1565866640
ERepo:
CA16020738/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894903G>C , CM000674.2:g.102894903G>C | GRCh38 |
| NC_000012.11:g.103288681G>C , CM000674.1:g.103288681G>C | GRCh37 |
| NC_000012.10:g.101812811G>C | NCBI36 |
| NG_008690.1:g.27700C>G | |
| NG_008690.2:g.68508C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.184C>G MANE Select | ENSP00000448059.1:p.Leu62Val | |
| ENST00000307000.7:c.169C>G | ENSP00000303500.2:p.Leu57Val | |
| ENST00000546844.1:c.184C>G | ENSP00000446658.1:p.Leu62Val | |
| ENST00000548677.2:n.271C>G | ||
| ENST00000548928.1:n.106C>G | ||
| ENST00000549111.5:n.280C>G | ||
| ENST00000550978.6:c.168C>G | ||
| ENST00000551337.5:c.184C>G | ENSP00000447620.1:p.Leu62Val | |
| ENST00000551988.5:n.273C>G | ||
| ENST00000553106.5:c.184C>G | ENSP00000448059.1:p.Leu62Val | |
| ENST00000635500.1:n.152C>G | ||
| NM_000277.1:c.184C>G | NP_000268.1:p.Leu62Val | |
| XM_011538422.1:c.184C>G | XP_011536724.1:p.Leu62Val | |
| NM_000277.2:c.184C>G | NP_000268.1:p.Leu62Val | |
| NM_001354304.1:c.184C>G | NP_001341233.1:p.Leu62Val | |
| XM_017019370.2:c.184C>G | XP_016874859.1:p.Leu62Val | |
| NM_000277.3:c.184C>G MANE Select | NP_000268.1:p.Leu62Val | |
| NM_001354304.2:c.184C>G | NP_001341233.1:p.Leu62Val |