Linked Data
ClinVar Variation Id:
482253
dbSNP Id:
rs577466163
ExAC:
5:112173257 C / G
gnomAD v2:
5-112173257-C-G
gnomAD v3:
5-112837560-C-G
gnomAD v4:
5-112837560-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112837560C>G , CM000667.2:g.112837560C>G | GRCh38 |
| NC_000005.9:g.112173257C>G , CM000667.1:g.112173257C>G | GRCh37 |
| NC_000005.8:g.112201156C>G | NCBI36 |
| NG_008481.4:g.150040C>G , LRG_130:g.150040C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1631C>G | ENSP00000484935.2:n.1631C>G | |
| ENST00000504915.3:c.2020C>G | ENSP00000473355.2:p.Leu674Val | |
| ENST00000505350.2:c.*1972C>G | ENSP00000481752.1:n.*1972C>G | |
| ENST00000507379.6:c.1912C>G | ENSP00000423224.2:p.Leu638Val | |
| ENST00000509732.6:c.1966C>G | ENSP00000426541.2:p.Leu656Val | |
| ENST00000512211.7:c.1966C>G | ENSP00000423828.3:p.Leu656Val | |
| ENST00000257430.9:c.1966C>G MANE Select | ENSP00000257430.4:p.Leu656Val | |
| ENST00000257430.8:c.1966C>G | ENSP00000257430.4:p.Leu656Val | |
| ENST00000502371.2:c.319C>G | ||
| ENST00000504915.2:c.655C>G | ENSP00000473355.1:p.Leu219Val | |
| ENST00000507379.5:c.1912C>G | ENSP00000423224.1:p.Leu638Val | |
| ENST00000508376.6:c.1966C>G | ENSP00000427089.2:p.Leu656Val | |
| ENST00000508624.5:c.*1288C>G | ENSP00000424265.1:n.*1288C>G | |
| ENST00000512211.6:c.1966C>G | ENSP00000423828.2:p.Leu656Val | |
| ENST00000520401.1:c.230+8588C>G | ||
| NM_000038.5:c.1966C>G | NP_000029.2:p.Leu656Val | |
| NM_001127510.2:c.1966C>G | NP_001120982.1:p.Leu656Val | |
| NM_001127511.2:c.1912C>G | NP_001120983.2:p.Leu638Val | |
| NM_001354895.1:c.1966C>G | NP_001341824.1:p.Leu656Val | |
| NM_001354896.1:c.2020C>G | NP_001341825.1:p.Leu674Val | |
| NM_001354897.1:c.1996C>G | NP_001341826.1:p.Leu666Val | |
| NM_001354898.1:c.1891C>G | NP_001341827.1:p.Leu631Val | |
| NM_001354899.1:c.1882C>G | NP_001341828.1:p.Leu628Val | |
| NM_001354900.1:c.1843C>G | NP_001341829.1:p.Leu615Val | |
| NM_001354901.1:c.1789C>G | NP_001341830.1:p.Leu597Val | |
| NM_001354902.1:c.1693C>G | NP_001341831.1:p.Leu565Val | |
| NM_001354903.1:c.1663C>G | NP_001341832.1:p.Leu555Val | |
| NM_001354904.1:c.1588C>G | NP_001341833.1:p.Leu530Val | |
| NM_001354905.1:c.1486C>G | NP_001341834.1:p.Leu496Val | |
| NM_001354906.1:c.1117C>G | NP_001341835.1:p.Leu373Val | |
| NM_000038.6:c.1966C>G MANE Select | NP_000029.2:p.Leu656Val | |
| NM_001127510.3:c.1966C>G | NP_001120982.1:p.Leu656Val | |
| NM_001127511.3:c.1912C>G | NP_001120983.2:p.Leu638Val | |
| NM_001354895.2:c.1966C>G | NP_001341824.1:p.Leu656Val | |
| NM_001354896.2:c.2020C>G | NP_001341825.1:p.Leu674Val | |
| NM_001354897.2:c.1996C>G | NP_001341826.1:p.Leu666Val | |
| NM_001354898.2:c.1891C>G | NP_001341827.1:p.Leu631Val | |
| NM_001354899.2:c.1882C>G | NP_001341828.1:p.Leu628Val | |
| NM_001354900.2:c.1843C>G | NP_001341829.1:p.Leu615Val | |
| NM_001354901.2:c.1789C>G | NP_001341830.1:p.Leu597Val | |
| NM_001354902.2:c.1693C>G | NP_001341831.1:p.Leu565Val | |
| NM_001354903.2:c.1663C>G | NP_001341832.1:p.Leu555Val | |
| NM_001354904.2:c.1588C>G | NP_001341833.1:p.Leu530Val | |
| NM_001354905.2:c.1486C>G | NP_001341834.1:p.Leu496Val | |
| NM_001354906.2:c.1117C>G | NP_001341835.1:p.Leu373Val |