Linked Data
ClinVar Variation Id:
8425
ClinVar RCV Id:
RCV000008936
dbSNP Id:
rs74315306
gnomAD v4:
1-150806191-T-A
PubMed:
PMID:10491211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150806191T>A , CM000663.2:g.150806191T>A | GRCh38 |
| NC_000001.10:g.150778667T>A , CM000663.1:g.150778667T>A | GRCh37 |
| NC_000001.9:g.149045291T>A | NCBI36 |
| NG_011848.1:g.7146A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.154A>T MANE Select | ENSP00000271651.3:p.Lys52Ter | |
| ENST00000443913.2:c.331A>T | ENSP00000405083.2:p.Lys111Ter | |
| ENST00000480670.2:n.3223A>T | ||
| ENST00000676680.1:c.154A>T | ENSP00000503270.1:p.Lys52Ter | |
| ENST00000676716.1:c.121-175A>T | ENSP00000504737.1:n.121-175A>T | |
| ENST00000676751.1:c.154A>T | ENSP00000502964.1:p.Lys52Ter | |
| ENST00000676824.1:c.154A>T | ENSP00000504176.1:p.Lys52Ter | |
| ENST00000676966.1:c.154A>T | ENSP00000503723.1:p.Lys52Ter | |
| ENST00000676970.1:c.154A>T | ENSP00000503832.1:p.Lys52Ter | |
| ENST00000677330.1:n.1980A>T | ||
| ENST00000677887.1:c.196A>T | ENSP00000503876.1:p.Lys66Ter | |
| ENST00000678275.1:c.*46A>T | ENSP00000504796.1:n.*46A>T | |
| ENST00000678337.1:c.190A>T | ENSP00000504759.1:p.Lys64Ter | |
| ENST00000678725.1:n.1131A>T | ||
| ENST00000679090.1:n.739A>T | ||
| ENST00000679148.1:n.1495A>T | ||
| ENST00000679171.1:n.2515A>T | ||
| ENST00000679260.1:c.154A>T | ENSP00000504534.1:p.Lys52Ter | |
| ENST00000271651.7:c.154A>T | ENSP00000271651.3:p.Lys52Ter | |
| ENST00000443913.1:c.331A>T | ENSP00000405083.1:p.Lys111Ter | |
| ENST00000480670.1:n.84-175A>T | ||
| NM_000396.3:c.154A>T | NP_000387.1:p.Lys52Ter | |
| NM_000396.4:c.154A>T MANE Select | NP_000387.1:p.Lys52Ter |