Linked Data
ClinVar Variation Id:
184999
ClinVar RCV Id:
RCV000164351
RCV000202113
RCV000501350
RCV000763538
RCV001353622
RCV001789763
RCV002517615
RCV003337238
dbSNP Id:
rs786201856
gnomAD v4:
5-112815507-C-T
COSMIC:
COSM19679
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112815507C>T , CM000667.2:g.112815507C>T | GRCh38 |
| NC_000005.9:g.112151204C>T , CM000667.1:g.112151204C>T | GRCh37 |
| NC_000005.8:g.112179103C>T | NCBI36 |
| NG_008481.4:g.127987C>T , LRG_130:g.127987C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.847C>T | ENSP00000484935.2:p.Arg283Ter | |
| ENST00000504915.3:c.847C>T | ENSP00000473355.2:p.Arg283Ter | |
| ENST00000505084.2:n.903C>T | ||
| ENST00000505350.2:c.*853C>T | ENSP00000481752.1:n.*853C>T | |
| ENST00000507379.6:c.793C>T | ENSP00000423224.2:p.Arg265Ter | |
| ENST00000509732.6:c.847C>T | ENSP00000426541.2:p.Arg283Ter | |
| ENST00000512211.7:c.847C>T | ENSP00000423828.3:p.Arg283Ter | |
| ENST00000257430.9:c.847C>T MANE Select | ENSP00000257430.4:p.Arg283Ter | |
| ENST00000257430.8:c.847C>T | ENSP00000257430.4:p.Arg283Ter | |
| ENST00000507379.5:c.793C>T | ENSP00000423224.1:p.Arg265Ter | |
| ENST00000508376.6:c.847C>T | ENSP00000427089.2:p.Arg283Ter | |
| ENST00000508624.5:c.*169C>T | ENSP00000424265.1:n.*169C>T | |
| ENST00000512211.6:c.847C>T | ENSP00000423828.2:p.Arg283Ter | |
| NM_000038.5:c.847C>T | NP_000029.2:p.Arg283Ter | |
| NM_001127510.2:c.847C>T | NP_001120982.1:p.Arg283Ter | |
| NM_001127511.2:c.793C>T | NP_001120983.2:p.Arg265Ter | |
| NM_001354895.1:c.847C>T | NP_001341824.1:p.Arg283Ter | |
| NM_001354896.1:c.847C>T | NP_001341825.1:p.Arg283Ter | |
| NM_001354897.1:c.877C>T | NP_001341826.1:p.Arg293Ter | |
| NM_001354898.1:c.772C>T | NP_001341827.1:p.Arg258Ter | |
| NM_001354899.1:c.763C>T | NP_001341828.1:p.Arg255Ter | |
| NM_001354900.1:c.670C>T | NP_001341829.1:p.Arg224Ter | |
| NM_001354901.1:c.670C>T | NP_001341830.1:p.Arg224Ter | |
| NM_001354902.1:c.877C>T | NP_001341831.1:p.Arg293Ter | |
| NM_001354903.1:c.847C>T | NP_001341832.1:p.Arg283Ter | |
| NM_001354904.1:c.772C>T | NP_001341833.1:p.Arg258Ter | |
| NM_001354905.1:c.670C>T | NP_001341834.1:p.Arg224Ter | |
| NM_001354906.1:c.-3C>T | NP_001341835.1:n.-3C>T | |
| NM_000038.6:c.847C>T MANE Select | NP_000029.2:p.Arg283Ter | |
| NM_001127510.3:c.847C>T | NP_001120982.1:p.Arg283Ter | |
| NM_001127511.3:c.793C>T | NP_001120983.2:p.Arg265Ter | |
| NM_001354895.2:c.847C>T | NP_001341824.1:p.Arg283Ter | |
| NM_001354896.2:c.847C>T | NP_001341825.1:p.Arg283Ter | |
| NM_001354897.2:c.877C>T | NP_001341826.1:p.Arg293Ter | |
| NM_001354898.2:c.772C>T | NP_001341827.1:p.Arg258Ter | |
| NM_001354899.2:c.763C>T | NP_001341828.1:p.Arg255Ter | |
| NM_001354900.2:c.670C>T | NP_001341829.1:p.Arg224Ter | |
| NM_001354901.2:c.670C>T | NP_001341830.1:p.Arg224Ter | |
| NM_001354902.2:c.877C>T | NP_001341831.1:p.Arg293Ter | |
| NM_001354903.2:c.847C>T | NP_001341832.1:p.Arg283Ter | |
| NM_001354904.2:c.772C>T | NP_001341833.1:p.Arg258Ter | |
| NM_001354905.2:c.670C>T | NP_001341834.1:p.Arg224Ter | |
| NM_001354906.2:c.-3C>T | NP_001341835.1:n.-3C>T |