Linked Data
ClinVar Variation Id:
2984168
ClinVar RCV Id:
RCV003843327
MyVariant Identifiers:
chr1:g.150776578C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150804102C>G , CM000663.2:g.150804102C>G | GRCh38 |
| NC_000001.10:g.150776578C>G , CM000663.1:g.150776578C>G | GRCh37 |
| NC_000001.9:g.149043202C>G | NCBI36 |
| NG_011848.1:g.9235G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.537G>C MANE Select | ENSP00000271651.3:p.Gly179= | |
| ENST00000443913.2:c.714G>C | ENSP00000405083.2:p.Gly238= | |
| ENST00000480670.2:n.3606G>C | ||
| ENST00000676680.1:c.537G>C | ENSP00000503270.1:p.Gly179= | |
| ENST00000676716.1:c.414G>C | ENSP00000504737.1:p.Gly138= | |
| ENST00000676751.1:c.537G>C | ENSP00000502964.1:p.Gly179= | |
| ENST00000676824.1:c.537G>C | ENSP00000504176.1:p.Gly179= | |
| ENST00000676966.1:c.537G>C | ENSP00000503723.1:p.Gly179= | |
| ENST00000676970.1:c.537G>C | ENSP00000503832.1:p.Gly179= | |
| ENST00000677330.1:n.2363G>C | ||
| ENST00000677611.1:n.389G>C | ||
| ENST00000677887.1:c.579G>C | ENSP00000503876.1:p.Gly193= | |
| ENST00000678275.1:c.*429G>C | ENSP00000504796.1:n.*429G>C | |
| ENST00000678337.1:c.573G>C | ENSP00000504759.1:p.Gly191= | |
| ENST00000678725.1:n.1514G>C | ||
| ENST00000679090.1:n.1122G>C | ||
| ENST00000679148.1:n.3499G>C | ||
| ENST00000679171.1:n.2898G>C | ||
| ENST00000679260.1:c.399+1759G>C | ENSP00000504534.1:n.399+1759G>C | |
| ENST00000271651.7:c.537G>C | ENSP00000271651.3:p.Gly179= | |
| ENST00000443913.1:c.714G>C | ENSP00000405083.1:p.Gly238= | |
| ENST00000480670.1:n.377G>C | ||
| NM_000396.3:c.537G>C | NP_000387.1:p.Gly179= | |
| NM_000396.4:c.537G>C MANE Select | NP_000387.1:p.Gly179= |