Linked Data
ClinVar Variation Id:
300093
dbSNP Id:
rs886047039
gnomAD v2:
10-50736520-G-C
gnomAD v3:
10-49528474-G-C
gnomAD v4:
10-49528474-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49528474G>C , CM000672.2:g.49528474G>C | GRCh38 |
| NC_000010.10:g.50736520G>C , CM000672.1:g.50736520G>C | GRCh37 |
| NC_000010.9:g.50406526G>C | NCBI36 |
| NG_009442.1:g.15628C>G , LRG_465:g.15628C>G | |
| NG_033155.1:g.808C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.595C>G MANE Select | ENSP00000348089.5:p.Leu199Val | |
| ENST00000447839.7:c.595C>G MANE Plus Clinical | ENSP00000387966.2:p.Leu199Val | |
| ENST00000679596.1:c.*224C>G | ENSP00000504862.1:n.*224C>G | |
| ENST00000679811.1:n.678C>G | ||
| ENST00000680107.1:c.595C>G | ENSP00000505909.1:p.Leu199Val | |
| ENST00000680233.1:n.688C>G | ||
| ENST00000681632.1:n.673C>G | ||
| ENST00000681659.1:c.595C>G | ENSP00000505631.1:p.Leu199Val | |
| ENST00000355832.9:c.595C>G | ENSP00000348089.5:p.Leu199Val | |
| ENST00000447839.6:c.595C>G | ENSP00000387966.2:p.Leu199Val | |
| ENST00000479652.1:n.70C>G | ||
| ENST00000515869.1:c.595C>G | ENSP00000423550.1:p.Leu199Val | |
| NM_000124.3:c.595C>G | NP_000115.1:p.Leu199Val | |
| NM_001277058.1:c.595C>G | NP_001263987.1:p.Leu199Val | |
| NM_001277059.1:c.595C>G | NP_001263988.1:p.Leu199Val | |
| NM_001346440.1:c.595C>G | NP_001333369.1:p.Leu199Val | |
| NM_000124.4:c.595C>G MANE Select | NP_000115.1:p.Leu199Val | |
| NM_001277058.2:c.595C>G MANE Plus Clinical | NP_001263987.1:p.Leu199Val | |
| NM_001277059.2:c.595C>G | NP_001263988.1:p.Leu199Val | |
| NM_001346440.2:c.595C>G | NP_001333369.1:p.Leu199Val |