Linked Data
ClinVar Variation Id:
2711479
ClinVar RCV Id:
RCV003545324
gnomAD v4:
1-150804237-A-C
MyVariant Identifiers:
chr1:g.150776713A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150804237A>C , CM000663.2:g.150804237A>C | GRCh38 |
| NC_000001.10:g.150776713A>C , CM000663.1:g.150776713A>C | GRCh37 |
| NC_000001.9:g.149043337A>C | NCBI36 |
| NG_011848.1:g.9100T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.402T>G MANE Select | ENSP00000271651.3:p.Gly134= | |
| ENST00000443913.2:c.579T>G | ENSP00000405083.2:p.Gly193= | |
| ENST00000480670.2:n.3471T>G | ||
| ENST00000676680.1:c.402T>G | ENSP00000503270.1:p.Gly134= | |
| ENST00000676716.1:c.279T>G | ENSP00000504737.1:p.Gly93= | |
| ENST00000676751.1:c.402T>G | ENSP00000502964.1:p.Gly134= | |
| ENST00000676824.1:c.402T>G | ENSP00000504176.1:p.Gly134= | |
| ENST00000676966.1:c.402T>G | ENSP00000503723.1:p.Gly134= | |
| ENST00000676970.1:c.402T>G | ENSP00000503832.1:p.Gly134= | |
| ENST00000677330.1:n.2228T>G | ||
| ENST00000677611.1:n.254T>G | ||
| ENST00000677887.1:c.444T>G | ENSP00000503876.1:p.Gly148= | |
| ENST00000678275.1:c.*294T>G | ENSP00000504796.1:n.*294T>G | |
| ENST00000678337.1:c.438T>G | ENSP00000504759.1:p.Gly146= | |
| ENST00000678725.1:n.1379T>G | ||
| ENST00000679090.1:n.987T>G | ||
| ENST00000679148.1:n.3364T>G | ||
| ENST00000679171.1:n.2763T>G | ||
| ENST00000679260.1:c.399+1624T>G | ENSP00000504534.1:n.399+1624T>G | |
| ENST00000271651.7:c.402T>G | ENSP00000271651.3:p.Gly134= | |
| ENST00000443913.1:c.579T>G | ENSP00000405083.1:p.Gly193= | |
| ENST00000480670.1:n.242T>G | ||
| NM_000396.3:c.402T>G | NP_000387.1:p.Gly134= | |
| NM_000396.4:c.402T>G MANE Select | NP_000387.1:p.Gly134= |