Linked Data
ClinVar Variation Id:
801
dbSNP Id:
rs121913327
gnomAD v2:
5-112175303-C-T
COSMIC:
COSM13129
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839606C>T , CM000667.2:g.112839606C>T | GRCh38 |
| NC_000005.9:g.112175303C>T , CM000667.1:g.112175303C>T | GRCh37 |
| NC_000005.8:g.112203202C>T | NCBI36 |
| NG_008481.4:g.152086C>T , LRG_130:g.152086C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3677C>T | ENSP00000484935.2:n.3677C>T | |
| ENST00000504915.3:c.4066C>T | ENSP00000473355.2:p.Gln1356Ter | |
| ENST00000505350.2:c.*4018C>T | ENSP00000481752.1:n.*4018C>T | |
| ENST00000507379.6:c.3958C>T | ENSP00000423224.2:p.Gln1320Ter | |
| ENST00000509732.6:c.4012C>T | ENSP00000426541.2:p.Gln1338Ter | |
| ENST00000512211.7:c.4012C>T | ENSP00000423828.3:p.Gln1338Ter | |
| ENST00000257430.9:c.4012C>T MANE Select | ENSP00000257430.4:p.Gln1338Ter | |
| ENST00000257430.8:c.4012C>T | ENSP00000257430.4:p.Gln1338Ter | |
| ENST00000502371.2:c.2365C>T | ||
| ENST00000508376.6:c.4012C>T | ENSP00000427089.2:p.Gln1338Ter | |
| ENST00000508624.5:c.*3334C>T | ENSP00000424265.1:n.*3334C>T | |
| ENST00000520401.1:c.230+10634C>T | ||
| NM_000038.5:c.4012C>T | NP_000029.2:p.Gln1338Ter | |
| NM_001127510.2:c.4012C>T | NP_001120982.1:p.Gln1338Ter | |
| NM_001127511.2:c.3958C>T | NP_001120983.2:p.Gln1320Ter | |
| NM_001354895.1:c.4012C>T | NP_001341824.1:p.Gln1338Ter | |
| NM_001354896.1:c.4066C>T | NP_001341825.1:p.Gln1356Ter | |
| NM_001354897.1:c.4042C>T | NP_001341826.1:p.Gln1348Ter | |
| NM_001354898.1:c.3937C>T | NP_001341827.1:p.Gln1313Ter | |
| NM_001354899.1:c.3928C>T | NP_001341828.1:p.Gln1310Ter | |
| NM_001354900.1:c.3889C>T | NP_001341829.1:p.Gln1297Ter | |
| NM_001354901.1:c.3835C>T | NP_001341830.1:p.Gln1279Ter | |
| NM_001354902.1:c.3739C>T | NP_001341831.1:p.Gln1247Ter | |
| NM_001354903.1:c.3709C>T | NP_001341832.1:p.Gln1237Ter | |
| NM_001354904.1:c.3634C>T | NP_001341833.1:p.Gln1212Ter | |
| NM_001354905.1:c.3532C>T | NP_001341834.1:p.Gln1178Ter | |
| NM_001354906.1:c.3163C>T | NP_001341835.1:p.Gln1055Ter | |
| NM_000038.6:c.4012C>T MANE Select | NP_000029.2:p.Gln1338Ter | |
| NM_001127510.3:c.4012C>T | NP_001120982.1:p.Gln1338Ter | |
| NM_001127511.3:c.3958C>T | NP_001120983.2:p.Gln1320Ter | |
| NM_001354895.2:c.4012C>T | NP_001341824.1:p.Gln1338Ter | |
| NM_001354896.2:c.4066C>T | NP_001341825.1:p.Gln1356Ter | |
| NM_001354897.2:c.4042C>T | NP_001341826.1:p.Gln1348Ter | |
| NM_001354898.2:c.3937C>T | NP_001341827.1:p.Gln1313Ter | |
| NM_001354899.2:c.3928C>T | NP_001341828.1:p.Gln1310Ter | |
| NM_001354900.2:c.3889C>T | NP_001341829.1:p.Gln1297Ter | |
| NM_001354901.2:c.3835C>T | NP_001341830.1:p.Gln1279Ter | |
| NM_001354902.2:c.3739C>T | NP_001341831.1:p.Gln1247Ter | |
| NM_001354903.2:c.3709C>T | NP_001341832.1:p.Gln1237Ter | |
| NM_001354904.2:c.3634C>T | NP_001341833.1:p.Gln1212Ter | |
| NM_001354905.2:c.3532C>T | NP_001341834.1:p.Gln1178Ter | |
| NM_001354906.2:c.3163C>T | NP_001341835.1:p.Gln1055Ter |