Linked Data
ClinVar Variation Id:
2541724
ClinVar RCV Id:
RCV003281999
dbSNP Id:
rs199555702
gnomAD v4:
1-150804023-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150804023G>T , CM000663.2:g.150804023G>T | GRCh38 |
| NC_000001.10:g.150776499G>T , CM000663.1:g.150776499G>T | GRCh37 |
| NC_000001.9:g.149043123G>T | NCBI36 |
| NG_011848.1:g.9314C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.616C>A MANE Select | ENSP00000271651.3:p.Gln206Lys | |
| ENST00000443913.2:c.793C>A | ENSP00000405083.2:p.Gln265Lys | |
| ENST00000480670.2:n.3685C>A | ||
| ENST00000676680.1:c.616C>A | ENSP00000503270.1:p.Gln206Lys | |
| ENST00000676716.1:c.493C>A | ENSP00000504737.1:p.Gln165Lys | |
| ENST00000676751.1:c.616C>A | ENSP00000502964.1:p.Gln206Lys | |
| ENST00000676824.1:c.616C>A | ENSP00000504176.1:p.Gln206Lys | |
| ENST00000676966.1:c.616C>A | ENSP00000503723.1:p.Gln206Lys | |
| ENST00000676970.1:c.616C>A | ENSP00000503832.1:p.Gln206Lys | |
| ENST00000677330.1:n.2442C>A | ||
| ENST00000677611.1:n.468C>A | ||
| ENST00000677887.1:c.658C>A | ENSP00000503876.1:p.Gln220Lys | |
| ENST00000678275.1:c.*508C>A | ENSP00000504796.1:n.*508C>A | |
| ENST00000678337.1:c.652C>A | ENSP00000504759.1:p.Gln218Lys | |
| ENST00000678725.1:n.1593C>A | ||
| ENST00000679090.1:n.1201C>A | ||
| ENST00000679148.1:n.3578C>A | ||
| ENST00000679171.1:n.2977C>A | ||
| ENST00000679260.1:c.399+1838C>A | ENSP00000504534.1:n.399+1838C>A | |
| ENST00000271651.7:c.616C>A | ENSP00000271651.3:p.Gln206Lys | |
| ENST00000480670.1:n.456C>A | ||
| NM_000396.3:c.616C>A | NP_000387.1:p.Gln206Lys | |
| NM_000396.4:c.616C>A MANE Select | NP_000387.1:p.Gln206Lys |