Linked Data
ClinVar Variation Id:
156480
dbSNP Id:
rs587783034
ExAC:
5:112164611 C / T
gnomAD v2:
5-112164611-C-T
gnomAD v3:
5-112828914-C-T
gnomAD v4:
5-112828914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112828914C>T , CM000667.2:g.112828914C>T | GRCh38 |
| NC_000005.9:g.112164611C>T , CM000667.1:g.112164611C>T | GRCh37 |
| NC_000005.8:g.112192510C>T | NCBI36 |
| NG_008481.4:g.141394C>T , LRG_130:g.141394C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1409-6037C>T | ENSP00000484935.2:n.1409-6037C>T | |
| ENST00000504915.3:c.1739C>T | ENSP00000473355.2:p.Thr580Met | |
| ENST00000505084.2:n.1741C>T | ||
| ENST00000505350.2:c.*1691C>T | ENSP00000481752.1:n.*1691C>T | |
| ENST00000507379.6:c.1631C>T | ENSP00000423224.2:p.Thr544Met | |
| ENST00000509732.6:c.1685C>T | ENSP00000426541.2:p.Thr562Met | |
| ENST00000512211.7:c.1685C>T | ENSP00000423828.3:p.Thr562Met | |
| ENST00000257430.9:c.1685C>T MANE Select | ENSP00000257430.4:p.Thr562Met | |
| ENST00000257430.8:c.1685C>T | ENSP00000257430.4:p.Thr562Met | |
| ENST00000502371.2:c.97-6037C>T | ||
| ENST00000504915.2:c.374C>T | ENSP00000473355.1:p.Thr125Met | |
| ENST00000505084.1:n.172C>T | ||
| ENST00000507379.5:c.1631C>T | ENSP00000423224.1:p.Thr544Met | |
| ENST00000508376.6:c.1685C>T | ENSP00000427089.2:p.Thr562Met | |
| ENST00000508624.5:c.*1007C>T | ENSP00000424265.1:n.*1007C>T | |
| ENST00000512211.6:c.1685C>T | ENSP00000423828.2:p.Thr562Met | |
| ENST00000520401.1:c.172C>T | ||
| NM_000038.5:c.1685C>T | NP_000029.2:p.Thr562Met | |
| NM_001127510.2:c.1685C>T | NP_001120982.1:p.Thr562Met | |
| NM_001127511.2:c.1631C>T | NP_001120983.2:p.Thr544Met | |
| NM_001354895.1:c.1685C>T | NP_001341824.1:p.Thr562Met | |
| NM_001354896.1:c.1739C>T | NP_001341825.1:p.Thr580Met | |
| NM_001354897.1:c.1715C>T | NP_001341826.1:p.Thr572Met | |
| NM_001354898.1:c.1610C>T | NP_001341827.1:p.Thr537Met | |
| NM_001354899.1:c.1601C>T | NP_001341828.1:p.Thr534Met | |
| NM_001354900.1:c.1562C>T | NP_001341829.1:p.Thr521Met | |
| NM_001354901.1:c.1508C>T | NP_001341830.1:p.Thr503Met | |
| NM_001354902.1:c.1412C>T | NP_001341831.1:p.Thr471Met | |
| NM_001354903.1:c.1382C>T | NP_001341832.1:p.Thr461Met | |
| NM_001354904.1:c.1307C>T | NP_001341833.1:p.Thr436Met | |
| NM_001354905.1:c.1205C>T | NP_001341834.1:p.Thr402Met | |
| NM_001354906.1:c.836C>T | NP_001341835.1:p.Thr279Met | |
| NM_000038.6:c.1685C>T MANE Select | NP_000029.2:p.Thr562Met | |
| NM_001127510.3:c.1685C>T | NP_001120982.1:p.Thr562Met | |
| NM_001127511.3:c.1631C>T | NP_001120983.2:p.Thr544Met | |
| NM_001354895.2:c.1685C>T | NP_001341824.1:p.Thr562Met | |
| NM_001354896.2:c.1739C>T | NP_001341825.1:p.Thr580Met | |
| NM_001354897.2:c.1715C>T | NP_001341826.1:p.Thr572Met | |
| NM_001354898.2:c.1610C>T | NP_001341827.1:p.Thr537Met | |
| NM_001354899.2:c.1601C>T | NP_001341828.1:p.Thr534Met | |
| NM_001354900.2:c.1562C>T | NP_001341829.1:p.Thr521Met | |
| NM_001354901.2:c.1508C>T | NP_001341830.1:p.Thr503Met | |
| NM_001354902.2:c.1412C>T | NP_001341831.1:p.Thr471Met | |
| NM_001354903.2:c.1382C>T | NP_001341832.1:p.Thr461Met | |
| NM_001354904.2:c.1307C>T | NP_001341833.1:p.Thr436Met | |
| NM_001354905.2:c.1205C>T | NP_001341834.1:p.Thr402Met | |
| NM_001354906.2:c.836C>T | NP_001341835.1:p.Thr279Met |