Linked Data
ClinVar Variation Id:
411503
ClinVar RCV Id:
RCV003766589
dbSNP Id:
rs1060503340
gnomAD v4:
5-112821985-G-T
PubMed:
PMID:19531215
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112821985G>T , CM000667.2:g.112821985G>T | GRCh38 |
| NC_000005.9:g.112157682G>T , CM000667.1:g.112157682G>T | GRCh37 |
| NC_000005.8:g.112185581G>T | NCBI36 |
| NG_008481.4:g.134465G>T , LRG_130:g.134465G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1402G>T | ENSP00000484935.2:p.Glu468Ter | |
| ENST00000504915.3:c.1402G>T | ENSP00000473355.2:p.Glu468Ter | |
| ENST00000505084.2:n.1458G>T | ||
| ENST00000505350.2:c.*1408G>T | ENSP00000481752.1:n.*1408G>T | |
| ENST00000507379.6:c.1348G>T | ENSP00000423224.2:p.Glu450Ter | |
| ENST00000509732.6:c.1402G>T | ENSP00000426541.2:p.Glu468Ter | |
| ENST00000512211.7:c.1402G>T | ENSP00000423828.3:p.Glu468Ter | |
| ENST00000257430.9:c.1402G>T MANE Select | ENSP00000257430.4:p.Glu468Ter | |
| ENST00000257430.8:c.1402G>T | ENSP00000257430.4:p.Glu468Ter | |
| ENST00000502371.2:c.90G>T | ||
| ENST00000504915.2:c.37G>T | ENSP00000473355.1:p.Glu13Ter | |
| ENST00000507379.5:c.1348G>T | ENSP00000423224.1:p.Glu450Ter | |
| ENST00000508376.6:c.1402G>T | ENSP00000427089.2:p.Glu468Ter | |
| ENST00000508624.5:c.*724G>T | ENSP00000424265.1:n.*724G>T | |
| ENST00000512211.6:c.1402G>T | ENSP00000423828.2:p.Glu468Ter | |
| NM_000038.5:c.1402G>T | NP_000029.2:p.Glu468Ter | |
| NM_001127510.2:c.1402G>T | NP_001120982.1:p.Glu468Ter | |
| NM_001127511.2:c.1348G>T | NP_001120983.2:p.Glu450Ter | |
| NM_001354895.1:c.1402G>T | NP_001341824.1:p.Glu468Ter | |
| NM_001354896.1:c.1402G>T | NP_001341825.1:p.Glu468Ter | |
| NM_001354897.1:c.1432G>T | NP_001341826.1:p.Glu478Ter | |
| NM_001354898.1:c.1327G>T | NP_001341827.1:p.Glu443Ter | |
| NM_001354899.1:c.1318G>T | NP_001341828.1:p.Glu440Ter | |
| NM_001354900.1:c.1225G>T | NP_001341829.1:p.Glu409Ter | |
| NM_001354901.1:c.1225G>T | NP_001341830.1:p.Glu409Ter | |
| NM_001354902.1:c.1129G>T | NP_001341831.1:p.Glu377Ter | |
| NM_001354903.1:c.1099G>T | NP_001341832.1:p.Glu367Ter | |
| NM_001354904.1:c.1024G>T | NP_001341833.1:p.Glu342Ter | |
| NM_001354905.1:c.922G>T | NP_001341834.1:p.Glu308Ter | |
| NM_001354906.1:c.553G>T | NP_001341835.1:p.Glu185Ter | |
| NM_000038.6:c.1402G>T MANE Select | NP_000029.2:p.Glu468Ter | |
| NM_001127510.3:c.1402G>T | NP_001120982.1:p.Glu468Ter | |
| NM_001127511.3:c.1348G>T | NP_001120983.2:p.Glu450Ter | |
| NM_001354895.2:c.1402G>T | NP_001341824.1:p.Glu468Ter | |
| NM_001354896.2:c.1402G>T | NP_001341825.1:p.Glu468Ter | |
| NM_001354897.2:c.1432G>T | NP_001341826.1:p.Glu478Ter | |
| NM_001354898.2:c.1327G>T | NP_001341827.1:p.Glu443Ter | |
| NM_001354899.2:c.1318G>T | NP_001341828.1:p.Glu440Ter | |
| NM_001354900.2:c.1225G>T | NP_001341829.1:p.Glu409Ter | |
| NM_001354901.2:c.1225G>T | NP_001341830.1:p.Glu409Ter | |
| NM_001354902.2:c.1129G>T | NP_001341831.1:p.Glu377Ter | |
| NM_001354903.2:c.1099G>T | NP_001341832.1:p.Glu367Ter | |
| NM_001354904.2:c.1024G>T | NP_001341833.1:p.Glu342Ter | |
| NM_001354905.2:c.922G>T | NP_001341834.1:p.Glu308Ter | |
| NM_001354906.2:c.553G>T | NP_001341835.1:p.Glu185Ter |