Linked Data
ClinVar Variation Id:
794213
ClinVar RCV Id:
RCV001442247
dbSNP Id:
rs1597509559
MyVariant Identifiers:
chr15:g.48707750G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48415553G>A , CM000677.2:g.48415553G>A | GRCh38 |
| NC_000015.9:g.48707750G>A , CM000677.1:g.48707750G>A | GRCh37 |
| NC_000015.8:g.46495042G>A | NCBI36 |
| NG_008805.2:g.235236C>T , LRG_778:g.235236C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*842C>T | ENSP00000453958.2:n.*842C>T | |
| ENST00000674301.2:c.*1547C>T | ENSP00000501333.2:n.*1547C>T | |
| ENST00000682158.1:n.1415C>T | ||
| ENST00000682170.1:n.2215C>T | ||
| ENST00000682767.1:n.1331C>T | ||
| ENST00000316623.10:c.8034C>T MANE Select | ENSP00000325527.5:p.Tyr2678= | |
| ENST00000674301.1:c.3200C>T | ENSP00000501333.1:n.3200C>T | |
| ENST00000316623.9:c.8034C>T | ENSP00000325527.5:p.Tyr2678= | |
| ENST00000559133.5:c.3403C>T | ||
| ENST00000561429.1:n.289C>T | ||
| NM_000138.4:c.8034C>T , LRG_778t1:c.8034C>T | NP_000129.3:p.Tyr2678= | |
| NM_000138.5:c.8034C>T MANE Select | NP_000129.3:p.Tyr2678= |