Linked Data
ClinVar Variation Id:
1775843
ClinVar RCV Id:
RCV002398360
dbSNP Id:
rs1243443520
gnomAD v3:
10-68165806-C-G
gnomAD v4:
10-68165806-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68165806C>G , CM000672.2:g.68165806C>G | GRCh38 |
| NC_000010.10:g.69925563C>G , CM000672.1:g.69925563C>G | GRCh37 |
| NC_000010.9:g.69595569C>G | NCBI36 |
| NG_032118.1:g.64690C>G , LRG_410:g.64690C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.763C>G | ENSP00000346369.2:p.Leu255Val | |
| ENST00000373675.4:c.1588C>G | ENSP00000362779.4:p.Leu530Val | |
| ENST00000540630.6:c.1642C>G | ENSP00000441668.3:p.Leu548Val | |
| ENST00000613327.5:c.1588C>G | ENSP00000480757.2:p.Leu530Val | |
| ENST00000687572.1:c.466C>G | ENSP00000510427.1:p.Leu156Val | |
| ENST00000687705.1:c.*1837C>G | ENSP00000509639.1:n.*1837C>G | |
| ENST00000688812.1:c.1564C>G | ENSP00000510658.1:p.Leu522Val | |
| ENST00000689002.1:n.640C>G | ||
| ENST00000690544.1:c.*859C>G | ENSP00000508989.1:n.*859C>G | |
| ENST00000358913.10:c.1588C>G MANE Select | ENSP00000351790.5:p.Leu530Val | |
| ENST00000354393.6:c.763C>G | ENSP00000346369.2:p.Leu255Val | |
| ENST00000358913.9:c.1588C>G | ENSP00000351790.5:p.Leu530Val | |
| ENST00000540630.5:c.1588C>G | ENSP00000441668.2:p.Leu530Val | |
| ENST00000613327.4:c.706C>G | ENSP00000480757.1:p.Leu236Val | |
| NM_001256267.1:c.1588C>G | NP_001243196.1:p.Leu530Val | |
| NM_001256268.1:c.706C>G | NP_001243197.1:p.Leu236Val | |
| NM_032578.3:c.1588C>G , LRG_410t1:c.1588C>G | NP_115967.2:p.Leu530Val | |
| NR_045662.3:n.1015C>G | ||
| NR_045663.3:n.1856C>G | ||
| XM_006718043.2:c.1642C>G | XP_006718106.1:p.Leu548Val | |
| XM_011540292.1:c.1618C>G | XP_011538594.1:p.Leu540Val | |
| XM_017016833.1:c.1666C>G | XP_016872322.1:p.Leu556Val | |
| XM_017016834.2:c.1588C>G | XP_016872323.1:p.Leu530Val | |
| XM_024448236.1:c.466C>G | XP_024304004.1:p.Leu156Val | |
| NR_045662.4:n.1125C>G | ||
| NR_045663.4:n.1801C>G | ||
| NM_001256267.2:c.1588C>G | NP_001243196.1:p.Leu530Val | |
| NM_001256268.2:c.706C>G | NP_001243197.1:p.Leu236Val | |
| NM_032578.4:c.1588C>G MANE Select | NP_115967.2:p.Leu530Val |