Linked Data
ClinVar Variation Id:
100626
dbSNP Id:
rs199676861
ExAC:
11:118220583 A / T
gnomAD v2:
11-118220583-A-T
gnomAD v3:
11-118349868-A-T
gnomAD v4:
11-118349868-A-T
COSMIC:
COSM1321888
PubMed:
PMID:17277165
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118349868A>T , CM000673.2:g.118349868A>T | GRCh38 |
| NC_000011.9:g.118220583A>T , CM000673.1:g.118220583A>T | GRCh37 |
| NC_000011.8:g.117725793A>T | NCBI36 |
| NG_007566.1:g.10525A>T , LRG_39:g.10525A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000532917.3:c.205A>T MANE Select | ENSP00000431445.2:p.Lys69Ter | |
| ENST00000292144.8:c.*262A>T | ENSP00000292144.4:n.*262A>T | |
| ENST00000392883.6:c.25A>T | ENSP00000376621.2:p.Lys9Ter | |
| ENST00000527777.5:n.285A>T | ||
| ENST00000528540.5:n.226A>T | ||
| ENST00000532903.1:n.281A>T | ||
| ENST00000532917.1:c.205A>T | ENSP00000431445.1:p.Lys69Ter | |
| ENST00000533462.5:n.977A>T | ||
| NM_000073.2:c.205A>T , LRG_39t1:c.205A>T | NP_000064.1:p.Lys69Ter | |
| XM_005271724.2:c.205A>T | XP_005271781.1:p.Lys69Ter | |
| XM_006718941.2:c.205A>T | XP_006719004.1:p.Lys69Ter | |
| XM_005271724.4:c.205A>T | XP_005271781.1:p.Lys69Ter | |
| XM_006718941.3:c.205A>T | XP_006719004.1:p.Lys69Ter | |
| NM_000073.3:c.205A>T MANE Select | NP_000064.1:p.Lys69Ter |