Linked Data
ClinVar Variation Id:
2871824
ClinVar RCV Id:
RCV003698739
gnomAD v4:
1-154988581-G-A
MyVariant Identifiers:
chr1:g.154961057G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154988581G>A , CM000663.2:g.154988581G>A | GRCh38 |
| NC_000001.10:g.154961057G>A , CM000663.1:g.154961057G>A | GRCh37 |
| NC_000001.9:g.153227681G>A | NCBI36 |
| NG_042310.1:g.10288G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292180.8:c.849G>A MANE Select | ENSP00000292180.3:p.Glu283= | |
| ENST00000292180.7:c.849G>A | ENSP00000292180.3:p.Glu283= | |
| ENST00000295530.6:c.48G>A | ENSP00000295530.2:p.Glu16= | |
| ENST00000315144.14:c.558G>A | ENSP00000317296.10:p.Glu186= | |
| ENST00000368428.1:c.-610G>A | ENSP00000357413.1:n.-610G>A | |
| ENST00000368431.7:c.552G>A | ENSP00000357416.3:p.Glu184= | |
| ENST00000368432.5:c.558G>A | ENSP00000357417.1:p.Glu186= | |
| ENST00000368433.5:c.849G>A | ENSP00000357418.1:p.Glu283= | |
| NM_001184891.1:c.558G>A | NP_001171820.1:p.Glu186= | |
| NM_001184892.1:c.552G>A | NP_001171821.1:p.Glu184= | |
| NM_025207.4:c.849G>A | NP_079483.3:p.Glu283= | |
| NM_201398.2:c.558G>A | NP_958800.1:p.Glu186= | |
| XM_005245502.2:c.558G>A | XP_005245559.1:p.Glu186= | |
| XM_005245503.2:c.48G>A | XP_005245560.1:p.Glu16= | |
| XM_006711559.2:c.558G>A | XP_006711622.1:p.Glu186= | |
| XR_241098.3:n.767G>A | ||
| NM_025207.5:c.849G>A MANE Select | NP_079483.3:p.Glu283= | |
| NM_001184891.2:c.558G>A | NP_001171820.1:p.Glu186= | |
| NM_001184892.2:c.552G>A | NP_001171821.1:p.Glu184= | |
| NM_201398.3:c.558G>A | NP_958800.1:p.Glu186= |