Linked Data
ClinVar Variation Id:
2865769
ClinVar RCV Id:
RCV003605512
gnomAD v4:
1-55039957-G-A
MyVariant Identifiers:
chr1:g.55505630G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039957G>A , CM000663.2:g.55039957G>A | GRCh38 |
| NC_000001.10:g.55505630G>A , CM000663.1:g.55505630G>A | GRCh37 |
| NC_000001.9:g.55278218G>A | NCBI36 |
| NG_009061.1:g.5411G>A , LRG_275:g.5411G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.120G>A | ENSP00000501161.2:p.Glu40= | |
| ENST00000710286.1:c.477G>A | ENSP00000518176.1:p.Glu159= | |
| ENST00000673726.1:c.120G>A | ENSP00000501004.1:p.Glu40= | |
| ENST00000302118.5:c.120G>A MANE Select | ENSP00000303208.5:p.Glu40= | |
| NM_174936.3:c.120G>A , LRG_275t1:c.120G>A | NP_777596.2:p.Glu40= | |
| NM_174936.4:c.120G>A MANE Select | NP_777596.2:p.Glu40= |