Linked Data
ClinVar Variation Id:
584664
dbSNP Id:
rs1019221239
COSMIC:
COSM4619833
PubMed:
PMID:9101302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112835093T>A , CM000667.2:g.112835093T>A | GRCh38 |
| NC_000005.9:g.112170790T>A , CM000667.1:g.112170790T>A | GRCh37 |
| NC_000005.8:g.112198689T>A | NCBI36 |
| NG_008481.4:g.147573T>A , LRG_130:g.147573T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1551T>A | ENSP00000484935.2:n.1551T>A | |
| ENST00000504915.3:c.1940T>A | ENSP00000473355.2:p.Leu647Ter | |
| ENST00000505350.2:c.*1892T>A | ENSP00000481752.1:n.*1892T>A | |
| ENST00000507379.6:c.1832T>A | ENSP00000423224.2:p.Leu611Ter | |
| ENST00000509732.6:c.1886T>A | ENSP00000426541.2:p.Leu629Ter | |
| ENST00000512211.7:c.1886T>A | ENSP00000423828.3:p.Leu629Ter | |
| ENST00000257430.9:c.1886T>A MANE Select | ENSP00000257430.4:p.Leu629Ter | |
| ENST00000257430.8:c.1886T>A | ENSP00000257430.4:p.Leu629Ter | |
| ENST00000502371.2:c.239T>A | ||
| ENST00000504915.2:c.575T>A | ENSP00000473355.1:p.Leu192Ter | |
| ENST00000507379.5:c.1832T>A | ENSP00000423224.1:p.Leu611Ter | |
| ENST00000508376.6:c.1886T>A | ENSP00000427089.2:p.Leu629Ter | |
| ENST00000508624.5:c.*1208T>A | ENSP00000424265.1:n.*1208T>A | |
| ENST00000512211.6:c.1886T>A | ENSP00000423828.2:p.Leu629Ter | |
| ENST00000520401.1:c.230+6121T>A | ||
| NM_000038.5:c.1886T>A | NP_000029.2:p.Leu629Ter | |
| NM_001127510.2:c.1886T>A | NP_001120982.1:p.Leu629Ter | |
| NM_001127511.2:c.1832T>A | NP_001120983.2:p.Leu611Ter | |
| NM_001354895.1:c.1886T>A | NP_001341824.1:p.Leu629Ter | |
| NM_001354896.1:c.1940T>A | NP_001341825.1:p.Leu647Ter | |
| NM_001354897.1:c.1916T>A | NP_001341826.1:p.Leu639Ter | |
| NM_001354898.1:c.1811T>A | NP_001341827.1:p.Leu604Ter | |
| NM_001354899.1:c.1802T>A | NP_001341828.1:p.Leu601Ter | |
| NM_001354900.1:c.1763T>A | NP_001341829.1:p.Leu588Ter | |
| NM_001354901.1:c.1709T>A | NP_001341830.1:p.Leu570Ter | |
| NM_001354902.1:c.1613T>A | NP_001341831.1:p.Leu538Ter | |
| NM_001354903.1:c.1583T>A | NP_001341832.1:p.Leu528Ter | |
| NM_001354904.1:c.1508T>A | NP_001341833.1:p.Leu503Ter | |
| NM_001354905.1:c.1406T>A | NP_001341834.1:p.Leu469Ter | |
| NM_001354906.1:c.1037T>A | NP_001341835.1:p.Leu346Ter | |
| NM_000038.6:c.1886T>A MANE Select | NP_000029.2:p.Leu629Ter | |
| NM_001127510.3:c.1886T>A | NP_001120982.1:p.Leu629Ter | |
| NM_001127511.3:c.1832T>A | NP_001120983.2:p.Leu611Ter | |
| NM_001354895.2:c.1886T>A | NP_001341824.1:p.Leu629Ter | |
| NM_001354896.2:c.1940T>A | NP_001341825.1:p.Leu647Ter | |
| NM_001354897.2:c.1916T>A | NP_001341826.1:p.Leu639Ter | |
| NM_001354898.2:c.1811T>A | NP_001341827.1:p.Leu604Ter | |
| NM_001354899.2:c.1802T>A | NP_001341828.1:p.Leu601Ter | |
| NM_001354900.2:c.1763T>A | NP_001341829.1:p.Leu588Ter | |
| NM_001354901.2:c.1709T>A | NP_001341830.1:p.Leu570Ter | |
| NM_001354902.2:c.1613T>A | NP_001341831.1:p.Leu538Ter | |
| NM_001354903.2:c.1583T>A | NP_001341832.1:p.Leu528Ter | |
| NM_001354904.2:c.1508T>A | NP_001341833.1:p.Leu503Ter | |
| NM_001354905.2:c.1406T>A | NP_001341834.1:p.Leu469Ter | |
| NM_001354906.2:c.1037T>A | NP_001341835.1:p.Leu346Ter |