Linked Data
ClinVar Variation Id:
127281
ClinVar RCV Id:
RCV000115073
RCV000501097
RCV001292808
RCV001270020
RCV001824606
RCV003935094
RCV003337232
RCV003997211
dbSNP Id:
rs587779783
COSMIC:
COSM19058
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838007C>T , CM000667.2:g.112838007C>T | GRCh38 |
| NC_000005.9:g.112173704C>T , CM000667.1:g.112173704C>T | GRCh37 |
| NC_000005.8:g.112201603C>T | NCBI36 |
| NG_008481.4:g.150487C>T , LRG_130:g.150487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2078C>T | ENSP00000484935.2:n.2078C>T | |
| ENST00000504915.3:c.2467C>T | ENSP00000473355.2:p.Arg823Ter | |
| ENST00000505350.2:c.*2419C>T | ENSP00000481752.1:n.*2419C>T | |
| ENST00000507379.6:c.2359C>T | ENSP00000423224.2:p.Arg787Ter | |
| ENST00000509732.6:c.2413C>T | ENSP00000426541.2:p.Arg805Ter | |
| ENST00000512211.7:c.2413C>T | ENSP00000423828.3:p.Arg805Ter | |
| ENST00000257430.9:c.2413C>T MANE Select | ENSP00000257430.4:p.Arg805Ter | |
| ENST00000257430.8:c.2413C>T | ENSP00000257430.4:p.Arg805Ter | |
| ENST00000502371.2:c.766C>T | ||
| ENST00000507379.5:c.2359C>T | ENSP00000423224.1:p.Arg787Ter | |
| ENST00000508376.6:c.2413C>T | ENSP00000427089.2:p.Arg805Ter | |
| ENST00000508624.5:c.*1735C>T | ENSP00000424265.1:n.*1735C>T | |
| ENST00000512211.6:c.2413C>T | ENSP00000423828.2:p.Arg805Ter | |
| ENST00000520401.1:c.230+9035C>T | ||
| NM_000038.5:c.2413C>T | NP_000029.2:p.Arg805Ter | |
| NM_001127510.2:c.2413C>T | NP_001120982.1:p.Arg805Ter | |
| NM_001127511.2:c.2359C>T | NP_001120983.2:p.Arg787Ter | |
| NM_001354895.1:c.2413C>T | NP_001341824.1:p.Arg805Ter | |
| NM_001354896.1:c.2467C>T | NP_001341825.1:p.Arg823Ter | |
| NM_001354897.1:c.2443C>T | NP_001341826.1:p.Arg815Ter | |
| NM_001354898.1:c.2338C>T | NP_001341827.1:p.Arg780Ter | |
| NM_001354899.1:c.2329C>T | NP_001341828.1:p.Arg777Ter | |
| NM_001354900.1:c.2290C>T | NP_001341829.1:p.Arg764Ter | |
| NM_001354901.1:c.2236C>T | NP_001341830.1:p.Arg746Ter | |
| NM_001354902.1:c.2140C>T | NP_001341831.1:p.Arg714Ter | |
| NM_001354903.1:c.2110C>T | NP_001341832.1:p.Arg704Ter | |
| NM_001354904.1:c.2035C>T | NP_001341833.1:p.Arg679Ter | |
| NM_001354905.1:c.1933C>T | NP_001341834.1:p.Arg645Ter | |
| NM_001354906.1:c.1564C>T | NP_001341835.1:p.Arg522Ter | |
| NM_000038.6:c.2413C>T MANE Select | NP_000029.2:p.Arg805Ter | |
| NM_001127510.3:c.2413C>T | NP_001120982.1:p.Arg805Ter | |
| NM_001127511.3:c.2359C>T | NP_001120983.2:p.Arg787Ter | |
| NM_001354895.2:c.2413C>T | NP_001341824.1:p.Arg805Ter | |
| NM_001354896.2:c.2467C>T | NP_001341825.1:p.Arg823Ter | |
| NM_001354897.2:c.2443C>T | NP_001341826.1:p.Arg815Ter | |
| NM_001354898.2:c.2338C>T | NP_001341827.1:p.Arg780Ter | |
| NM_001354899.2:c.2329C>T | NP_001341828.1:p.Arg777Ter | |
| NM_001354900.2:c.2290C>T | NP_001341829.1:p.Arg764Ter | |
| NM_001354901.2:c.2236C>T | NP_001341830.1:p.Arg746Ter | |
| NM_001354902.2:c.2140C>T | NP_001341831.1:p.Arg714Ter | |
| NM_001354903.2:c.2110C>T | NP_001341832.1:p.Arg704Ter | |
| NM_001354904.2:c.2035C>T | NP_001341833.1:p.Arg679Ter | |
| NM_001354905.2:c.1933C>T | NP_001341834.1:p.Arg645Ter | |
| NM_001354906.2:c.1564C>T | NP_001341835.1:p.Arg522Ter |