Linked Data
ClinVar Variation Id:
420712
dbSNP Id:
rs746293695
ExAC:
5:112157685 C / T
gnomAD v2:
5-112157685-C-T
gnomAD v4:
5-112821988-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112821988C>T , CM000667.2:g.112821988C>T | GRCh38 |
| NC_000005.9:g.112157685C>T , CM000667.1:g.112157685C>T | GRCh37 |
| NC_000005.8:g.112185584C>T | NCBI36 |
| NG_008481.4:g.134468C>T , LRG_130:g.134468C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1405C>T | ENSP00000484935.2:p.Leu469= | |
| ENST00000504915.3:c.1405C>T | ENSP00000473355.2:p.Leu469= | |
| ENST00000505084.2:n.1461C>T | ||
| ENST00000505350.2:c.*1411C>T | ENSP00000481752.1:n.*1411C>T | |
| ENST00000507379.6:c.1351C>T | ENSP00000423224.2:p.Leu451= | |
| ENST00000509732.6:c.1405C>T | ENSP00000426541.2:p.Leu469= | |
| ENST00000512211.7:c.1405C>T | ENSP00000423828.3:p.Leu469= | |
| ENST00000257430.9:c.1405C>T MANE Select | ENSP00000257430.4:p.Leu469= | |
| ENST00000257430.8:c.1405C>T | ENSP00000257430.4:p.Leu469= | |
| ENST00000502371.2:c.93C>T | ||
| ENST00000504915.2:c.40C>T | ENSP00000473355.1:p.Leu14= | |
| ENST00000507379.5:c.1351C>T | ENSP00000423224.1:p.Leu451= | |
| ENST00000508376.6:c.1405C>T | ENSP00000427089.2:p.Leu469= | |
| ENST00000508624.5:c.*727C>T | ENSP00000424265.1:n.*727C>T | |
| ENST00000512211.6:c.1405C>T | ENSP00000423828.2:p.Leu469= | |
| NM_000038.5:c.1405C>T | NP_000029.2:p.Leu469= | |
| NM_001127510.2:c.1405C>T | NP_001120982.1:p.Leu469= | |
| NM_001127511.2:c.1351C>T | NP_001120983.2:p.Leu451= | |
| NM_001354895.1:c.1405C>T | NP_001341824.1:p.Leu469= | |
| NM_001354896.1:c.1405C>T | NP_001341825.1:p.Leu469= | |
| NM_001354897.1:c.1435C>T | NP_001341826.1:p.Leu479= | |
| NM_001354898.1:c.1330C>T | NP_001341827.1:p.Leu444= | |
| NM_001354899.1:c.1321C>T | NP_001341828.1:p.Leu441= | |
| NM_001354900.1:c.1228C>T | NP_001341829.1:p.Leu410= | |
| NM_001354901.1:c.1228C>T | NP_001341830.1:p.Leu410= | |
| NM_001354902.1:c.1132C>T | NP_001341831.1:p.Leu378= | |
| NM_001354903.1:c.1102C>T | NP_001341832.1:p.Leu368= | |
| NM_001354904.1:c.1027C>T | NP_001341833.1:p.Leu343= | |
| NM_001354905.1:c.925C>T | NP_001341834.1:p.Leu309= | |
| NM_001354906.1:c.556C>T | NP_001341835.1:p.Leu186= | |
| NM_000038.6:c.1405C>T MANE Select | NP_000029.2:p.Leu469= | |
| NM_001127510.3:c.1405C>T | NP_001120982.1:p.Leu469= | |
| NM_001127511.3:c.1351C>T | NP_001120983.2:p.Leu451= | |
| NM_001354895.2:c.1405C>T | NP_001341824.1:p.Leu469= | |
| NM_001354896.2:c.1405C>T | NP_001341825.1:p.Leu469= | |
| NM_001354897.2:c.1435C>T | NP_001341826.1:p.Leu479= | |
| NM_001354898.2:c.1330C>T | NP_001341827.1:p.Leu444= | |
| NM_001354899.2:c.1321C>T | NP_001341828.1:p.Leu441= | |
| NM_001354900.2:c.1228C>T | NP_001341829.1:p.Leu410= | |
| NM_001354901.2:c.1228C>T | NP_001341830.1:p.Leu410= | |
| NM_001354902.2:c.1132C>T | NP_001341831.1:p.Leu378= | |
| NM_001354903.2:c.1102C>T | NP_001341832.1:p.Leu368= | |
| NM_001354904.2:c.1027C>T | NP_001341833.1:p.Leu343= | |
| NM_001354905.2:c.925C>T | NP_001341834.1:p.Leu309= | |
| NM_001354906.2:c.556C>T | NP_001341835.1:p.Leu186= |