Linked Data
ClinVar Variation Id:
236589
ClinVar RCV Id:
RCV000424284
RCV000434269
RCV000491362
RCV000501152
RCV001353812
RCV001723814
RCV002516270
RCV003335272
dbSNP Id:
rs121913331
COSMIC:
COSM13125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838934C>T , CM000667.2:g.112838934C>T | GRCh38 |
| NC_000005.9:g.112174631C>T , CM000667.1:g.112174631C>T | GRCh37 |
| NC_000005.8:g.112202530C>T | NCBI36 |
| NG_008481.4:g.151414C>T , LRG_130:g.151414C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3005C>T | ENSP00000484935.2:n.3005C>T | |
| ENST00000504915.3:c.3394C>T | ENSP00000473355.2:p.Arg1132Ter | |
| ENST00000505350.2:c.*3346C>T | ENSP00000481752.1:n.*3346C>T | |
| ENST00000507379.6:c.3286C>T | ENSP00000423224.2:p.Arg1096Ter | |
| ENST00000509732.6:c.3340C>T | ENSP00000426541.2:p.Arg1114Ter | |
| ENST00000512211.7:c.3340C>T | ENSP00000423828.3:p.Arg1114Ter | |
| ENST00000257430.9:c.3340C>T MANE Select | ENSP00000257430.4:p.Arg1114Ter | |
| ENST00000257430.8:c.3340C>T | ENSP00000257430.4:p.Arg1114Ter | |
| ENST00000502371.2:c.1693C>T | ||
| ENST00000507379.5:c.3286C>T | ENSP00000423224.1:p.Arg1096Ter | |
| ENST00000508376.6:c.3340C>T | ENSP00000427089.2:p.Arg1114Ter | |
| ENST00000508624.5:c.*2662C>T | ENSP00000424265.1:n.*2662C>T | |
| ENST00000512211.6:c.3340C>T | ENSP00000423828.2:p.Arg1114Ter | |
| ENST00000520401.1:c.230+9962C>T | ||
| NM_000038.5:c.3340C>T | NP_000029.2:p.Arg1114Ter | |
| NM_001127510.2:c.3340C>T | NP_001120982.1:p.Arg1114Ter | |
| NM_001127511.2:c.3286C>T | NP_001120983.2:p.Arg1096Ter | |
| NM_001354895.1:c.3340C>T | NP_001341824.1:p.Arg1114Ter | |
| NM_001354896.1:c.3394C>T | NP_001341825.1:p.Arg1132Ter | |
| NM_001354897.1:c.3370C>T | NP_001341826.1:p.Arg1124Ter | |
| NM_001354898.1:c.3265C>T | NP_001341827.1:p.Arg1089Ter | |
| NM_001354899.1:c.3256C>T | NP_001341828.1:p.Arg1086Ter | |
| NM_001354900.1:c.3217C>T | NP_001341829.1:p.Arg1073Ter | |
| NM_001354901.1:c.3163C>T | NP_001341830.1:p.Arg1055Ter | |
| NM_001354902.1:c.3067C>T | NP_001341831.1:p.Arg1023Ter | |
| NM_001354903.1:c.3037C>T | NP_001341832.1:p.Arg1013Ter | |
| NM_001354904.1:c.2962C>T | NP_001341833.1:p.Arg988Ter | |
| NM_001354905.1:c.2860C>T | NP_001341834.1:p.Arg954Ter | |
| NM_001354906.1:c.2491C>T | NP_001341835.1:p.Arg831Ter | |
| NM_000038.6:c.3340C>T MANE Select | NP_000029.2:p.Arg1114Ter | |
| NM_001127510.3:c.3340C>T | NP_001120982.1:p.Arg1114Ter | |
| NM_001127511.3:c.3286C>T | NP_001120983.2:p.Arg1096Ter | |
| NM_001354895.2:c.3340C>T | NP_001341824.1:p.Arg1114Ter | |
| NM_001354896.2:c.3394C>T | NP_001341825.1:p.Arg1132Ter | |
| NM_001354897.2:c.3370C>T | NP_001341826.1:p.Arg1124Ter | |
| NM_001354898.2:c.3265C>T | NP_001341827.1:p.Arg1089Ter | |
| NM_001354899.2:c.3256C>T | NP_001341828.1:p.Arg1086Ter | |
| NM_001354900.2:c.3217C>T | NP_001341829.1:p.Arg1073Ter | |
| NM_001354901.2:c.3163C>T | NP_001341830.1:p.Arg1055Ter | |
| NM_001354902.2:c.3067C>T | NP_001341831.1:p.Arg1023Ter | |
| NM_001354903.2:c.3037C>T | NP_001341832.1:p.Arg1013Ter | |
| NM_001354904.2:c.2962C>T | NP_001341833.1:p.Arg988Ter | |
| NM_001354905.2:c.2860C>T | NP_001341834.1:p.Arg954Ter | |
| NM_001354906.2:c.2491C>T | NP_001341835.1:p.Arg831Ter |