Linked Data
ClinVar Variation Id:
1572673
ClinVar RCV Id:
RCV002219934
dbSNP Id:
rs2123125914
MyVariant Identifiers:
chr20:g.30408032A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31820229A>G , CM000682.2:g.31820229A>G | GRCh38 |
| NC_000020.10:g.30408032A>G , CM000682.1:g.30408032A>G | GRCh37 |
| NC_000020.9:g.29871693A>G | NCBI36 |
| NG_012847.1:g.5855A>G , LRG_392:g.5855A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.156A>G MANE Select | ENSP00000365152.4:p.Lys52= | |
| ENST00000375985.4:c.156A>G | ENSP00000365152.4:p.Lys52= | |
| ENST00000375994.6:c.156A>G | ENSP00000365162.2:p.Lys52= | |
| NM_033118.3:c.156A>G , LRG_392t1:c.156A>G | NP_149109.1:p.Lys52= | |
| XR_244155.1:n.321A>G | ||
| NM_033118.4:c.156A>G MANE Select | NP_149109.1:p.Lys52= |