Linked Data
ClinVar Variation Id:
282335
dbSNP Id:
rs750024353
ExAC:
11:68704508 C / T
gnomAD v2:
11-68704508-C-T
gnomAD v4:
11-68937040-C-T
COSMIC:
COSM6411403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68937040C>T , CM000673.2:g.68937040C>T | GRCh38 |
| NC_000011.9:g.68704508C>T , CM000673.1:g.68704508C>T | GRCh37 |
| NC_000011.8:g.68461084C>T | NCBI36 |
| NG_007976.1:g.38190C>T , LRG_250:g.38190C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2560C>T MANE Select | ENSP00000255078.4:p.Gln854Ter | |
| ENST00000674675.1:c.705C>T | ||
| ENST00000674878.1:c.665C>T | ||
| ENST00000675118.1:c.2048C>T | ||
| ENST00000675389.1:n.835C>T | ||
| ENST00000675615.1:c.2560C>T | ENSP00000502413.1:p.Gln854Ter | |
| ENST00000675648.1:n.1935C>T | ||
| ENST00000675916.1:c.804C>T | ||
| ENST00000676173.1:n.3305C>T | ||
| ENST00000676182.1:c.991C>T | ||
| ENST00000676228.1:c.*1883C>T | ENSP00000502375.1:n.*1883C>T | |
| ENST00000255078.7:c.2560C>T | ENSP00000255078.3:p.Gln854Ter | |
| ENST00000539064.5:n.2319C>T | ||
| ENST00000543739.5:n.1553C>T | ||
| NM_002180.2:c.2560C>T , LRG_250t1:c.2560C>T | NP_002171.2:p.Gln854Ter | |
| XM_005273974.2:c.1549C>T | XP_005274031.1:p.Gln517Ter | |
| XM_005273975.2:c.1432C>T | XP_005274032.1:p.Gln478Ter | |
| XM_011544994.1:c.1327C>T | XP_011543296.1:p.Gln443Ter | |
| XR_949903.1:n.2662C>T | ||
| XM_005273975.3:c.1432C>T | XP_005274032.1:p.Gln478Ter | |
| XM_017017669.2:c.1549C>T | XP_016873158.1:p.Gln517Ter | |
| XM_017017670.2:c.1549C>T | XP_016873159.1:p.Gln517Ter | |
| XR_949903.3:n.2658C>T | ||
| NM_002180.3:c.2560C>T MANE Select | NP_002171.2:p.Gln854Ter |