Linked Data
ClinVar Variation Id:
266069
dbSNP Id:
rs905184241
gnomAD v2:
12-64875638-C-G
gnomAD v3:
12-64481858-C-G
gnomAD v4:
12-64481858-C-G
PubMed:
PMID:28089114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64481858C>G , CM000674.2:g.64481858C>G | GRCh38 |
| NC_000012.11:g.64875638C>G , CM000674.1:g.64875638C>G | GRCh37 |
| NC_000012.10:g.63161905C>G | NCBI36 |
| NG_046906.1:g.34799C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331710.10:c.829C>G MANE Select | ENSP00000329967.5:p.Leu277Val | |
| ENST00000545025.2:c.17C>G | ||
| ENST00000650708.1:c.705C>G | ||
| ENST00000650762.1:c.673C>G | ENSP00000498758.1:p.Leu225Val | |
| ENST00000650786.1:c.*974C>G | ENSP00000498280.1:n.*974C>G | |
| ENST00000650790.1:c.829C>G | ENSP00000498995.1:p.Leu277Val | |
| ENST00000650997.1:c.829C>G | ENSP00000498341.1:p.Leu277Val | |
| ENST00000651014.1:c.673C>G | ENSP00000498885.1:p.Leu225Val | |
| ENST00000651262.1:c.829C>G | ENSP00000498461.1:p.Leu277Val | |
| ENST00000651878.1:c.*313C>G | ENSP00000499077.1:n.*313C>G | |
| ENST00000651889.1:n.580C>G | ||
| ENST00000651947.1:n.917C>G | ||
| ENST00000652389.1:c.829C>G | ENSP00000498414.1:p.Leu277Val | |
| ENST00000652537.1:c.829C>G | ENSP00000499102.1:p.Leu277Val | |
| ENST00000652657.1:c.829C>G | ENSP00000498887.1:p.Leu277Val | |
| ENST00000676551.1:n.928C>G | ||
| ENST00000676654.1:n.958C>G | ||
| ENST00000676684.1:n.958C>G | ||
| ENST00000676809.1:c.829C>G | ENSP00000504298.1:p.Leu277Val | |
| ENST00000676912.1:c.673C>G | ENSP00000503567.1:p.Leu225Val | |
| ENST00000676930.1:c.829C>G | ENSP00000502899.1:p.Leu277Val | |
| ENST00000676983.1:c.111+1736C>G | ||
| ENST00000677499.1:c.829C>G | ENSP00000502875.1:p.Leu277Val | |
| ENST00000677549.1:n.891C>G | ||
| ENST00000677632.1:c.829C>G | ENSP00000504586.1:p.Leu277Val | |
| ENST00000677641.1:c.829C>G | ENSP00000504637.1:p.Leu277Val | |
| ENST00000677670.1:n.17C>G | ||
| ENST00000677686.1:n.932C>G | ||
| ENST00000677831.1:c.829C>G | ENSP00000503760.1:p.Leu277Val | |
| ENST00000677858.1:c.17C>G | ||
| ENST00000677973.1:c.310C>G | ||
| ENST00000678180.1:c.829C>G | ENSP00000504132.1:p.Leu277Val | |
| ENST00000678197.1:n.812C>G | ||
| ENST00000678235.1:n.17C>G | ||
| ENST00000331710.9:c.829C>G | ENSP00000329967.5:p.Leu277Val | |
| NM_013254.3:c.829C>G | NP_037386.1:p.Leu277Val | |
| XM_005268809.1:c.829C>G | XP_005268866.1:p.Leu277Val | |
| XM_005268810.1:c.829C>G | XP_005268867.1:p.Leu277Val | |
| XR_944524.1:n.988C>G | ||
| XR_944525.1:n.988C>G | ||
| XR_001748674.2:n.943C>G | ||
| NM_013254.4:c.829C>G MANE Select | NP_037386.1:p.Leu277Val |