Linked Data
ClinVar Variation Id:
41056
dbSNP Id:
rs312262863
COSMIC:
COSM1115917
PubMed:
PMID:20301367
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13753411C>T , CM000685.2:g.13753411C>T | GRCh38 |
| NC_000023.10:g.13771530C>T , CM000685.1:g.13771530C>T | GRCh37 |
| NC_000023.9:g.13681451C>T | NCBI36 |
| NG_008872.1:g.23699C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.*792C>T | ENSP00000369941.2:n.*792C>T | |
| ENST00000398395.8:c.*672C>T | ENSP00000381432.5:n.*672C>T | |
| ENST00000464463.6:n.1262C>T | ||
| ENST00000490265.6:n.1628C>T | ||
| ENST00000682237.1:c.*659C>T | ENSP00000507121.1:n.*659C>T | |
| ENST00000682562.1:c.*792C>T | ENSP00000507874.1:n.*792C>T | |
| ENST00000682953.1:c.*1826C>T | ENSP00000507878.1:n.*1826C>T | |
| ENST00000683055.1:c.831-3167C>T | ENSP00000508191.1:n.831-3167C>T | |
| ENST00000683065.1:n.388C>T | ||
| ENST00000683284.1:c.*1330C>T | ENSP00000507837.1:n.*1330C>T | |
| ENST00000683427.1:c.936-3167C>T | ENSP00000507290.1:n.936-3167C>T | |
| ENST00000683454.1:n.1113C>T | ||
| ENST00000683637.1:n.2208C>T | ||
| ENST00000683655.1:c.*1313C>T | ENSP00000506770.1:n.*1313C>T | |
| ENST00000683713.1:c.*1330C>T | ENSP00000507797.1:n.*1330C>T | |
| ENST00000684577.1:c.*792C>T | ENSP00000507871.1:n.*792C>T | |
| ENST00000340096.11:c.1099C>T MANE Select | ENSP00000344314.6:p.Arg367Ter | |
| ENST00000340096.10:c.1099C>T | ENSP00000344314.6:p.Arg367Ter | |
| ENST00000380550.6:c.979C>T | ENSP00000369923.3:p.Arg327Ter | |
| ENST00000380567.5:c.679C>T | ENSP00000369941.1:p.Arg227Ter | |
| ENST00000398395.7:c.568C>T | ENSP00000381432.4:p.Arg190Ter | |
| ENST00000490265.5:n.2074C>T | ||
| NM_003611.2:c.1099C>T | NP_003602.1:p.Arg367Ter | |
| XM_005274599.2:c.1120C>T | XP_005274656.1:p.Arg374Ter | |
| XM_005274602.2:c.1120C>T | XP_005274659.1:p.Arg374Ter | |
| XM_005274603.2:c.1000C>T | XP_005274660.1:p.Arg334Ter | |
| XM_005274604.2:c.979C>T | XP_005274661.1:p.Arg327Ter | |
| XM_005274606.2:c.955C>T | XP_005274663.1:p.Arg319Ter | |
| XM_005274607.3:c.679C>T | XP_005274664.1:p.Arg227Ter | |
| XM_011545591.1:c.1120C>T | XP_011543893.1:p.Arg374Ter | |
| XM_011545592.1:c.907C>T | XP_011543894.1:p.Arg303Ter | |
| XM_011545593.1:c.1120C>T | XP_011543895.1:p.Arg374Ter | |
| XM_011545594.1:c.778C>T | XP_011543896.1:p.Arg260Ter | |
| XM_011545595.1:c.778C>T | XP_011543897.1:p.Arg260Ter | |
| XM_011545596.1:c.1120C>T | XP_011543898.1:p.Arg374Ter | |
| XM_011545597.1:c.679C>T | XP_011543899.1:p.Arg227Ter | |
| XM_011545598.1:c.-55+2043C>T | XP_011543900.1:n.-55+2043C>T | |
| XR_247288.2:n.1459C>T | ||
| NM_001330209.1:c.979C>T | NP_001317138.1:p.Arg327Ter | |
| NM_001330210.1:c.679C>T | NP_001317139.1:p.Arg227Ter | |
| XM_005274606.4:c.955C>T | XP_005274663.1:p.Arg319Ter | |
| XM_011545592.3:c.907C>T | XP_011543894.1:p.Arg303Ter | |
| XM_011545594.3:c.778C>T | XP_011543896.1:p.Arg260Ter | |
| XM_011545597.2:c.679C>T | XP_011543899.1:p.Arg227Ter | |
| XM_017029909.1:c.679C>T | XP_016885398.1:p.Arg227Ter | |
| XM_017029911.1:c.157C>T | XP_016885400.1:p.Arg53Ter | |
| XM_024452468.1:c.-177C>T | XP_024308236.1:n.-177C>T | |
| XM_024452469.1:c.-177C>T | XP_024308237.1:n.-177C>T | |
| XM_024452470.1:c.-177C>T | XP_024308238.1:n.-177C>T | |
| XM_024452471.1:c.-177C>T | XP_024308239.1:n.-177C>T | |
| NM_003611.3:c.1099C>T MANE Select | NP_003602.1:p.Arg367Ter | |
| NM_001330209.2:c.979C>T | NP_001317138.1:p.Arg327Ter | |
| NM_001330210.2:c.679C>T | NP_001317139.1:p.Arg227Ter |