Linked Data
ClinVar Variation Id:
2203477
ClinVar RCV Id:
RCV002651772
dbSNP Id:
rs104893752
gnomAD v4:
3-193638015-C-T
COSMIC:
COSM1042648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193638015C>T , CM000665.2:g.193638015C>T | GRCh38 |
| NC_000003.11:g.193355804C>T , CM000665.1:g.193355804C>T | GRCh37 |
| NC_000003.10:g.194838498C>T | NCBI36 |
| NG_011605.1:g.49872C>T , LRG_337:g.49872C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361510.8:c.1099C>T MANE Select | ENSP00000355324.2:p.Arg367Ter | |
| ENST00000361828.7:c.934C>T | ENSP00000354429.3:p.Arg312Ter | |
| ENST00000361908.8:c.1045C>T | ENSP00000354681.3:p.Arg349Ter | |
| ENST00000392436.7:c.934C>T | ENSP00000376231.3:p.Arg312Ter | |
| ENST00000392437.6:c.988C>T | ENSP00000376232.2:p.Arg330Ter | |
| ENST00000642289.1:c.1029C>T | ||
| ENST00000642445.1:c.934C>T | ENSP00000495535.1:p.Arg312Ter | |
| ENST00000642593.1:c.934C>T | ENSP00000494273.1:p.Arg312Ter | |
| ENST00000643329.1:c.616C>T | ENSP00000493673.1:p.Arg206Ter | |
| ENST00000643737.1:c.*1015C>T | ENSP00000494210.1:n.*1015C>T | |
| ENST00000644595.1:c.934C>T | ENSP00000494121.1:p.Arg312Ter | |
| ENST00000644629.1:c.594C>T | ||
| ENST00000644841.1:c.562C>T | ENSP00000493988.1:p.Arg188Ter | |
| ENST00000644959.1:c.903C>T | ||
| ENST00000645553.1:c.949C>T | ENSP00000494725.1:p.Arg317Ter | |
| ENST00000646085.1:c.*412C>T | ENSP00000494509.1:n.*412C>T | |
| ENST00000646277.1:c.1099C>T | ENSP00000495289.1:p.Arg367Ter | |
| ENST00000646699.1:c.1029C>T | ||
| ENST00000646793.1:c.826C>T | ENSP00000494512.1:p.Arg276Ter | |
| ENST00000361150.6:c.937C>T | ENSP00000354781.2:p.Arg313Ter | |
| ENST00000361510.6:c.1099C>T | ENSP00000355324.2:p.Arg367Ter | |
| ENST00000361715.6:c.991C>T | ENSP00000355311.2:p.Arg331Ter | |
| ENST00000361828.6:c.988C>T | ENSP00000354429.2:p.Arg330Ter | |
| ENST00000361908.7:c.1045C>T | ENSP00000354681.3:p.Arg349Ter | |
| ENST00000392438.7:c.934C>T | ENSP00000376233.3:p.Arg312Ter | |
| ENST00000475899.1:n.130C>T | ||
| ENST00000495476.1:n.455C>T | ||
| ENST00000497189.5:n.420C>T | ||
| NM_015560.2:c.934C>T , LRG_337t1:c.934C>T | NP_056375.2:p.Arg312Ter | |
| NM_130831.2:c.826C>T | NP_570844.1:p.Arg276Ter | |
| NM_130832.2:c.880C>T | NP_570845.1:p.Arg294Ter | |
| NM_130833.2:c.937C>T | NP_570846.1:p.Arg313Ter | |
| NM_130834.2:c.988C>T | NP_570847.2:p.Arg330Ter | |
| NM_130835.2:c.991C>T | NP_570848.1:p.Arg331Ter | |
| NM_130836.2:c.1045C>T | NP_570849.2:p.Arg349Ter | |
| NM_130837.2:c.1099C>T , LRG_337t2:c.1099C>T | NP_570850.2:p.Arg367Ter | |
| XM_011512863.1:c.1099C>T | XP_011511165.1:p.Arg367Ter | |
| XM_011512864.1:c.1045C>T | XP_011511166.1:p.Arg349Ter | |
| XM_011512865.1:c.988C>T | XP_011511167.1:p.Arg330Ter | |
| XM_011512866.1:c.937C>T | XP_011511168.1:p.Arg313Ter | |
| XM_011512867.1:c.934C>T | XP_011511169.1:p.Arg312Ter | |
| XM_011512868.1:c.826C>T | XP_011511170.1:p.Arg276Ter | |
| XM_011512869.1:c.1099C>T | XP_011511171.1:p.Arg367Ter | |
| NM_001354663.1:c.565C>T | NP_001341592.1:p.Arg189Ter | |
| NM_001354664.1:c.562C>T | NP_001341593.1:p.Arg188Ter | |
| XR_001740158.2:n.1328C>T | ||
| XR_001740159.2:n.1163C>T | ||
| NM_001354663.2:c.565C>T | NP_001341592.1:p.Arg189Ter | |
| NM_001354664.2:c.562C>T | NP_001341593.1:p.Arg188Ter | |
| NM_130831.3:c.826C>T | NP_570844.1:p.Arg276Ter | |
| NM_130832.3:c.880C>T | NP_570845.1:p.Arg294Ter | |
| NM_130834.3:c.988C>T | NP_570847.2:p.Arg330Ter | |
| NM_130836.3:c.1045C>T | NP_570849.2:p.Arg349Ter | |
| NM_015560.3:c.934C>T | NP_056375.2:p.Arg312Ter | |
| NM_130833.3:c.937C>T | NP_570846.1:p.Arg313Ter | |
| NM_130835.3:c.991C>T | NP_570848.1:p.Arg331Ter | |
| NM_130837.3:c.1099C>T MANE Select | NP_570850.2:p.Arg367Ter |