Linked Data
ClinVar Variation Id:
2929533
ClinVar RCV Id:
RCV003784699
dbSNP Id:
rs2042998904
MyVariant Identifiers:
chr15:g.48720640C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48428443C>T , CM000677.2:g.48428443C>T | GRCh38 |
| NC_000015.9:g.48720640C>T , CM000677.1:g.48720640C>T | GRCh37 |
| NC_000015.8:g.46507932C>T | NCBI36 |
| NG_008805.2:g.222346G>A , LRG_778:g.222346G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6900G>A | ENSP00000453958.2:p.Gly2300= | |
| ENST00000674301.2:c.*351G>A | ENSP00000501333.2:n.*351G>A | |
| ENST00000682170.1:n.509G>A | ||
| ENST00000682767.1:n.135G>A | ||
| ENST00000316623.10:c.6900G>A MANE Select | ENSP00000325527.5:p.Gly2300= | |
| ENST00000674301.1:c.2004G>A | ENSP00000501333.1:n.2004G>A | |
| ENST00000316623.9:c.6900G>A | ENSP00000325527.5:p.Gly2300= | |
| ENST00000559133.5:c.2207G>A | ||
| ENST00000560720.1:n.187G>A | ||
| NM_000138.4:c.6900G>A , LRG_778t1:c.6900G>A | NP_000129.3:p.Gly2300= | |
| NM_000138.5:c.6900G>A MANE Select | NP_000129.3:p.Gly2300= |