Linked Data
gnomAD v3:
1-150804204-C-T
gnomAD v4:
1-150804204-C-T
MyVariant Identifiers:
chr1:g.150776680C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150804204C>T , CM000663.2:g.150804204C>T | GRCh38 |
| NC_000001.10:g.150776680C>T , CM000663.1:g.150776680C>T | GRCh37 |
| NC_000001.9:g.149043304C>T | NCBI36 |
| NG_011848.1:g.9133G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.435G>A MANE Select | ENSP00000271651.3:p.Val145= | |
| ENST00000443913.2:c.612G>A | ENSP00000405083.2:p.Val204= | |
| ENST00000480670.2:n.3504G>A | ||
| ENST00000676680.1:c.435G>A | ENSP00000503270.1:p.Val145= | |
| ENST00000676716.1:c.312G>A | ENSP00000504737.1:p.Val104= | |
| ENST00000676751.1:c.435G>A | ENSP00000502964.1:p.Val145= | |
| ENST00000676824.1:c.435G>A | ENSP00000504176.1:p.Val145= | |
| ENST00000676966.1:c.435G>A | ENSP00000503723.1:p.Val145= | |
| ENST00000676970.1:c.435G>A | ENSP00000503832.1:p.Val145= | |
| ENST00000677330.1:n.2261G>A | ||
| ENST00000677611.1:n.287G>A | ||
| ENST00000677887.1:c.477G>A | ENSP00000503876.1:p.Val159= | |
| ENST00000678275.1:c.*327G>A | ENSP00000504796.1:n.*327G>A | |
| ENST00000678337.1:c.471G>A | ENSP00000504759.1:p.Val157= | |
| ENST00000678725.1:n.1412G>A | ||
| ENST00000679090.1:n.1020G>A | ||
| ENST00000679148.1:n.3397G>A | ||
| ENST00000679171.1:n.2796G>A | ||
| ENST00000679260.1:c.399+1657G>A | ENSP00000504534.1:n.399+1657G>A | |
| ENST00000271651.7:c.435G>A | ENSP00000271651.3:p.Val145= | |
| ENST00000443913.1:c.612G>A | ENSP00000405083.1:p.Val204= | |
| ENST00000480670.1:n.275G>A | ||
| NM_000396.3:c.435G>A | NP_000387.1:p.Val145= | |
| NM_000396.4:c.435G>A MANE Select | NP_000387.1:p.Val145= |