Linked Data
ClinVar Variation Id:
919730
ClinVar RCV Id:
RCV001178046
dbSNP Id:
rs2042872033
gnomAD v4:
15-48412587-A-G
MyVariant Identifiers:
chr15:g.48704784A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412587A>G , CM000677.2:g.48412587A>G | GRCh38 |
| NC_000015.9:g.48704784A>G , CM000677.1:g.48704784A>G | GRCh37 |
| NC_000015.8:g.46492076A>G | NCBI36 |
| NG_008805.2:g.238202T>C , LRG_778:g.238202T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1016T>C | ENSP00000453958.2:n.*1016T>C | |
| ENST00000674301.2:c.*1721T>C | ENSP00000501333.2:n.*1721T>C | |
| ENST00000682158.1:n.1589T>C | ||
| ENST00000682170.1:n.2389T>C | ||
| ENST00000682767.1:n.1505T>C | ||
| ENST00000316623.10:c.8208T>C MANE Select | ENSP00000325527.5:p.Thr2736= | |
| ENST00000674301.1:c.3374T>C | ENSP00000501333.1:n.3374T>C | |
| ENST00000316623.9:c.8208T>C | ENSP00000325527.5:p.Thr2736= | |
| ENST00000559133.5:c.3577T>C | ||
| ENST00000561429.1:n.463T>C | ||
| NM_000138.4:c.8208T>C , LRG_778t1:c.8208T>C | NP_000129.3:p.Thr2736= | |
| NM_000138.5:c.8208T>C MANE Select | NP_000129.3:p.Thr2736= |