Linked Data
ClinVar Variation Id:
928400
ClinVar RCV Id:
RCV001192261
dbSNP Id:
rs1561545834
gnomAD v4:
5-112821902-C-T
COSMIC:
COSM1696040
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112821902C>T , CM000667.2:g.112821902C>T | GRCh38 |
| NC_000005.9:g.112157599C>T , CM000667.1:g.112157599C>T | GRCh37 |
| NC_000005.8:g.112185498C>T | NCBI36 |
| NG_008481.4:g.134382C>T , LRG_130:g.134382C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1319C>T | ENSP00000484935.2:p.Ala440Val | |
| ENST00000504915.3:c.1319C>T | ENSP00000473355.2:p.Ala440Val | |
| ENST00000505084.2:n.1375C>T | ||
| ENST00000505350.2:c.*1325C>T | ENSP00000481752.1:n.*1325C>T | |
| ENST00000507379.6:c.1265C>T | ENSP00000423224.2:p.Ala422Val | |
| ENST00000509732.6:c.1319C>T | ENSP00000426541.2:p.Ala440Val | |
| ENST00000512211.7:c.1319C>T | ENSP00000423828.3:p.Ala440Val | |
| ENST00000257430.9:c.1319C>T MANE Select | ENSP00000257430.4:p.Ala440Val | |
| ENST00000257430.8:c.1319C>T | ENSP00000257430.4:p.Ala440Val | |
| ENST00000502371.2:c.7C>T | ||
| ENST00000507379.5:c.1265C>T | ENSP00000423224.1:p.Ala422Val | |
| ENST00000508376.6:c.1319C>T | ENSP00000427089.2:p.Ala440Val | |
| ENST00000508624.5:c.*641C>T | ENSP00000424265.1:n.*641C>T | |
| ENST00000512211.6:c.1319C>T | ENSP00000423828.2:p.Ala440Val | |
| NM_000038.5:c.1319C>T | NP_000029.2:p.Ala440Val | |
| NM_001127510.2:c.1319C>T | NP_001120982.1:p.Ala440Val | |
| NM_001127511.2:c.1265C>T | NP_001120983.2:p.Ala422Val | |
| NM_001354895.1:c.1319C>T | NP_001341824.1:p.Ala440Val | |
| NM_001354896.1:c.1319C>T | NP_001341825.1:p.Ala440Val | |
| NM_001354897.1:c.1349C>T | NP_001341826.1:p.Ala450Val | |
| NM_001354898.1:c.1244C>T | NP_001341827.1:p.Ala415Val | |
| NM_001354899.1:c.1235C>T | NP_001341828.1:p.Ala412Val | |
| NM_001354900.1:c.1142C>T | NP_001341829.1:p.Ala381Val | |
| NM_001354901.1:c.1142C>T | NP_001341830.1:p.Ala381Val | |
| NM_001354902.1:c.1046C>T | NP_001341831.1:p.Ala349Val | |
| NM_001354903.1:c.1016C>T | NP_001341832.1:p.Ala339Val | |
| NM_001354904.1:c.941C>T | NP_001341833.1:p.Ala314Val | |
| NM_001354905.1:c.839C>T | NP_001341834.1:p.Ala280Val | |
| NM_001354906.1:c.470C>T | NP_001341835.1:p.Ala157Val | |
| NM_000038.6:c.1319C>T MANE Select | NP_000029.2:p.Ala440Val | |
| NM_001127510.3:c.1319C>T | NP_001120982.1:p.Ala440Val | |
| NM_001127511.3:c.1265C>T | NP_001120983.2:p.Ala422Val | |
| NM_001354895.2:c.1319C>T | NP_001341824.1:p.Ala440Val | |
| NM_001354896.2:c.1319C>T | NP_001341825.1:p.Ala440Val | |
| NM_001354897.2:c.1349C>T | NP_001341826.1:p.Ala450Val | |
| NM_001354898.2:c.1244C>T | NP_001341827.1:p.Ala415Val | |
| NM_001354899.2:c.1235C>T | NP_001341828.1:p.Ala412Val | |
| NM_001354900.2:c.1142C>T | NP_001341829.1:p.Ala381Val | |
| NM_001354901.2:c.1142C>T | NP_001341830.1:p.Ala381Val | |
| NM_001354902.2:c.1046C>T | NP_001341831.1:p.Ala349Val | |
| NM_001354903.2:c.1016C>T | NP_001341832.1:p.Ala339Val | |
| NM_001354904.2:c.941C>T | NP_001341833.1:p.Ala314Val | |
| NM_001354905.2:c.839C>T | NP_001341834.1:p.Ala280Val | |
| NM_001354906.2:c.470C>T | NP_001341835.1:p.Ala157Val |