Linked Data
ClinVar Variation Id:
7819
ClinVar RCV Id:
RCV000008263
RCV000008265
RCV000078615
RCV000132187
RCV000199099
RCV000424529
RCV000443514
RCV001257555
RCV001327978
RCV001542771
RCV002476944
RCV003326115
RCV003162218
RCV004532310
dbSNP Id:
rs121909224
ExAC:
10:89692904 C / T
gnomAD v2:
10-89692904-C-T
gnomAD v4:
10-87933147-C-T
COSMIC:
COSM5152
CIViC:
CA000433
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933147C>T , CM000672.2:g.87933147C>T | GRCh38 |
| NC_000010.10:g.89692904C>T , CM000672.1:g.89692904C>T | GRCh37 |
| NC_000010.9:g.89682884C>T | NCBI36 |
| NG_007466.2:g.74709C>T , LRG_311:g.74709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.388C>T | ENSP00000514759.2:p.Arg130Ter | |
| ENST00000710265.1:c.388C>T | ENSP00000518161.1:p.Arg130Ter | |
| ENST00000472832.3:c.388C>T | ENSP00000483066.2:p.Arg130Ter | |
| ENST00000688158.2:n.1123C>T | ||
| ENST00000688922.2:c.*218C>T | ENSP00000508742.2:n.*218C>T | |
| ENST00000700021.1:c.343C>T | ENSP00000514757.1:p.Arg115Ter | |
| ENST00000700022.1:c.388C>T | ENSP00000514758.1:p.Arg130Ter | |
| ENST00000700029.1:c.222C>T | ||
| ENST00000706954.1:c.388C>T | ENSP00000516674.1:p.Arg130Ter | |
| ENST00000706955.1:c.*423C>T | ENSP00000516675.1:n.*423C>T | |
| ENST00000686459.1:c.388C>T | ENSP00000508909.1:p.Arg130Ter | |
| ENST00000688158.1:c.*499C>T | ENSP00000509254.1:n.*499C>T | |
| ENST00000688308.1:c.388C>T | ENSP00000508752.1:p.Arg130Ter | |
| ENST00000688922.1:c.309C>T | ||
| ENST00000693560.1:c.907C>T | ENSP00000509861.1:p.Arg303Ter | |
| ENST00000371953.8:c.388C>T MANE Select | ENSP00000361021.3:p.Arg130Ter | |
| ENST00000371953.7:c.388C>T | ENSP00000361021.3:p.Arg130Ter | |
| ENST00000498703.1:n.214C>T | ||
| ENST00000610634.1:c.286C>T | ENSP00000477517.1:p.Arg96Ter | |
| NM_000314.5:c.388C>T | NP_000305.3:p.Arg130Ter | |
| NM_000314.6:c.388C>T | NP_000305.3:p.Arg130Ter | |
| NM_001304717.2:c.907C>T | NP_001291646.2:p.Arg303Ter | |
| NM_001304718.1:c.-363C>T | NP_001291647.1:n.-363C>T | |
| XM_006717926.2:c.343C>T | XP_006717989.1:p.Arg115Ter | |
| XM_011539981.1:c.388C>T | XP_011538283.1:p.Arg130Ter | |
| XM_011539982.1:c.292C>T | XP_011538284.1:p.Arg98Ter | |
| XR_945789.1:n.1100C>T | ||
| XR_945790.1:n.1100C>T | ||
| XR_945791.1:n.1100C>T | ||
| NM_000314.7:c.388C>T | NP_000305.3:p.Arg130Ter | |
| NM_001304717.5:c.907C>T | NP_001291646.4:p.Arg303Ter | |
| NM_001304718.2:c.-363C>T | NP_001291647.1:n.-363C>T | |
| NM_000314.8:c.388C>T MANE Select | NP_000305.3:p.Arg130Ter |