Linked Data
ClinVar Variation Id:
42248
ClinVar RCV Id:
RCV000035081
RCV000486263
RCV000491782
RCV000763537
RCV000844606
RCV002288530
RCV003335063
RCV003989303
dbSNP Id:
rs397515734
gnomAD v4:
5-112792494-C-T
COSMIC:
COSM13130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112792494C>T , CM000667.2:g.112792494C>T | GRCh38 |
| NC_000005.9:g.112128191C>T , CM000667.1:g.112128191C>T | GRCh37 |
| NC_000005.8:g.112156090C>T | NCBI36 |
| NG_008481.4:g.104974C>T , LRG_130:g.104974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.694C>T | ENSP00000484935.2:p.Arg232Ter | |
| ENST00000504915.3:c.694C>T | ENSP00000473355.2:p.Arg232Ter | |
| ENST00000505084.2:n.750C>T | ||
| ENST00000505350.2:c.*700C>T | ENSP00000481752.1:n.*700C>T | |
| ENST00000507379.6:c.676-8785C>T | ENSP00000423224.2:n.676-8785C>T | |
| ENST00000509732.6:c.694C>T | ENSP00000426541.2:p.Arg232Ter | |
| ENST00000512211.7:c.694C>T | ENSP00000423828.3:p.Arg232Ter | |
| ENST00000257430.9:c.694C>T MANE Select | ENSP00000257430.4:p.Arg232Ter | |
| ENST00000257430.8:c.694C>T | ENSP00000257430.4:p.Arg232Ter | |
| ENST00000507379.5:c.676-8785C>T | ENSP00000423224.1:n.676-8785C>T | |
| ENST00000508376.6:c.694C>T | ENSP00000427089.2:p.Arg232Ter | |
| ENST00000508624.5:c.694C>T | ENSP00000424265.1:p.Arg232Ter | |
| ENST00000512211.6:c.694C>T | ENSP00000423828.2:p.Arg232Ter | |
| NM_000038.5:c.694C>T | NP_000029.2:p.Arg232Ter | |
| NM_001127510.2:c.694C>T | NP_001120982.1:p.Arg232Ter | |
| NM_001127511.2:c.676-8785C>T | NP_001120983.2:n.676-8785C>T | |
| NM_001354895.1:c.694C>T | NP_001341824.1:p.Arg232Ter | |
| NM_001354896.1:c.694C>T | NP_001341825.1:p.Arg232Ter | |
| NM_001354897.1:c.724C>T | NP_001341826.1:p.Arg242Ter | |
| NM_001354898.1:c.619C>T | NP_001341827.1:p.Arg207Ter | |
| NM_001354899.1:c.646-8785C>T | NP_001341828.1:n.646-8785C>T | |
| NM_001354900.1:c.517C>T | NP_001341829.1:p.Arg173Ter | |
| NM_001354901.1:c.517C>T | NP_001341830.1:p.Arg173Ter | |
| NM_001354902.1:c.724C>T | NP_001341831.1:p.Arg242Ter | |
| NM_001354903.1:c.694C>T | NP_001341832.1:p.Arg232Ter | |
| NM_001354904.1:c.619C>T | NP_001341833.1:p.Arg207Ter | |
| NM_001354905.1:c.517C>T | NP_001341834.1:p.Arg173Ter | |
| NM_001354906.1:c.-342C>T | NP_001341835.1:n.-342C>T | |
| NM_000038.6:c.694C>T MANE Select | NP_000029.2:p.Arg232Ter | |
| NM_001127510.3:c.694C>T | NP_001120982.1:p.Arg232Ter | |
| NM_001127511.3:c.676-8785C>T | NP_001120983.2:n.676-8785C>T | |
| NM_001354895.2:c.694C>T | NP_001341824.1:p.Arg232Ter | |
| NM_001354896.2:c.694C>T | NP_001341825.1:p.Arg232Ter | |
| NM_001354897.2:c.724C>T | NP_001341826.1:p.Arg242Ter | |
| NM_001354898.2:c.619C>T | NP_001341827.1:p.Arg207Ter | |
| NM_001354899.2:c.646-8785C>T | NP_001341828.1:n.646-8785C>T | |
| NM_001354900.2:c.517C>T | NP_001341829.1:p.Arg173Ter | |
| NM_001354901.2:c.517C>T | NP_001341830.1:p.Arg173Ter | |
| NM_001354902.2:c.724C>T | NP_001341831.1:p.Arg242Ter | |
| NM_001354903.2:c.694C>T | NP_001341832.1:p.Arg232Ter | |
| NM_001354904.2:c.619C>T | NP_001341833.1:p.Arg207Ter | |
| NM_001354905.2:c.517C>T | NP_001341834.1:p.Arg173Ter | |
| NM_001354906.2:c.-342C>T | NP_001341835.1:n.-342C>T |