Linked Data
ClinVar Variation Id:
411557
dbSNP Id:
rs1060503373
gnomAD v2:
5-112164568-T-G
gnomAD v3:
5-112828871-T-G
gnomAD v4:
5-112828871-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112828871T>G , CM000667.2:g.112828871T>G | GRCh38 |
| NC_000005.9:g.112164568T>G , CM000667.1:g.112164568T>G | GRCh37 |
| NC_000005.8:g.112192467T>G | NCBI36 |
| NG_008481.4:g.141351T>G , LRG_130:g.141351T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1409-6080T>G | ENSP00000484935.2:n.1409-6080T>G | |
| ENST00000504915.3:c.1696T>G | ENSP00000473355.2:p.Leu566Val | |
| ENST00000505084.2:n.1698T>G | ||
| ENST00000505350.2:c.*1648T>G | ENSP00000481752.1:n.*1648T>G | |
| ENST00000507379.6:c.1588T>G | ENSP00000423224.2:p.Leu530Val | |
| ENST00000509732.6:c.1642T>G | ENSP00000426541.2:p.Leu548Val | |
| ENST00000512211.7:c.1642T>G | ENSP00000423828.3:p.Leu548Val | |
| ENST00000257430.9:c.1642T>G MANE Select | ENSP00000257430.4:p.Leu548Val | |
| ENST00000257430.8:c.1642T>G | ENSP00000257430.4:p.Leu548Val | |
| ENST00000502371.2:c.97-6080T>G | ||
| ENST00000504915.2:c.331T>G | ENSP00000473355.1:p.Leu111Val | |
| ENST00000505084.1:n.129T>G | ||
| ENST00000507379.5:c.1588T>G | ENSP00000423224.1:p.Leu530Val | |
| ENST00000508376.6:c.1642T>G | ENSP00000427089.2:p.Leu548Val | |
| ENST00000508624.5:c.*964T>G | ENSP00000424265.1:n.*964T>G | |
| ENST00000512211.6:c.1642T>G | ENSP00000423828.2:p.Leu548Val | |
| ENST00000520401.1:c.129T>G | ||
| NM_000038.5:c.1642T>G | NP_000029.2:p.Leu548Val | |
| NM_001127510.2:c.1642T>G | NP_001120982.1:p.Leu548Val | |
| NM_001127511.2:c.1588T>G | NP_001120983.2:p.Leu530Val | |
| NM_001354895.1:c.1642T>G | NP_001341824.1:p.Leu548Val | |
| NM_001354896.1:c.1696T>G | NP_001341825.1:p.Leu566Val | |
| NM_001354897.1:c.1672T>G | NP_001341826.1:p.Leu558Val | |
| NM_001354898.1:c.1567T>G | NP_001341827.1:p.Leu523Val | |
| NM_001354899.1:c.1558T>G | NP_001341828.1:p.Leu520Val | |
| NM_001354900.1:c.1519T>G | NP_001341829.1:p.Leu507Val | |
| NM_001354901.1:c.1465T>G | NP_001341830.1:p.Leu489Val | |
| NM_001354902.1:c.1369T>G | NP_001341831.1:p.Leu457Val | |
| NM_001354903.1:c.1339T>G | NP_001341832.1:p.Leu447Val | |
| NM_001354904.1:c.1264T>G | NP_001341833.1:p.Leu422Val | |
| NM_001354905.1:c.1162T>G | NP_001341834.1:p.Leu388Val | |
| NM_001354906.1:c.793T>G | NP_001341835.1:p.Leu265Val | |
| NM_000038.6:c.1642T>G MANE Select | NP_000029.2:p.Leu548Val | |
| NM_001127510.3:c.1642T>G | NP_001120982.1:p.Leu548Val | |
| NM_001127511.3:c.1588T>G | NP_001120983.2:p.Leu530Val | |
| NM_001354895.2:c.1642T>G | NP_001341824.1:p.Leu548Val | |
| NM_001354896.2:c.1696T>G | NP_001341825.1:p.Leu566Val | |
| NM_001354897.2:c.1672T>G | NP_001341826.1:p.Leu558Val | |
| NM_001354898.2:c.1567T>G | NP_001341827.1:p.Leu523Val | |
| NM_001354899.2:c.1558T>G | NP_001341828.1:p.Leu520Val | |
| NM_001354900.2:c.1519T>G | NP_001341829.1:p.Leu507Val | |
| NM_001354901.2:c.1465T>G | NP_001341830.1:p.Leu489Val | |
| NM_001354902.2:c.1369T>G | NP_001341831.1:p.Leu457Val | |
| NM_001354903.2:c.1339T>G | NP_001341832.1:p.Leu447Val | |
| NM_001354904.2:c.1264T>G | NP_001341833.1:p.Leu422Val | |
| NM_001354905.2:c.1162T>G | NP_001341834.1:p.Leu388Val | |
| NM_001354906.2:c.793T>G | NP_001341835.1:p.Leu265Val |