Linked Data
ClinVar Variation Id:
2125504
ClinVar RCV Id:
RCV003043654
MyVariant Identifiers:
chr15:g.48726816C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48434619C>T , CM000677.2:g.48434619C>T | GRCh38 |
| NC_000015.9:g.48726816C>T , CM000677.1:g.48726816C>T | GRCh37 |
| NC_000015.8:g.46514108C>T | NCBI36 |
| NG_008805.2:g.216170G>A , LRG_778:g.216170G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6591G>A | ENSP00000453958.2:p.Glu2197= | |
| ENST00000674301.2:c.6591G>A | ENSP00000501333.2:p.Glu2197= | |
| ENST00000682170.1:n.200G>A | ||
| ENST00000316623.10:c.6591G>A MANE Select | ENSP00000325527.5:p.Glu2197= | |
| ENST00000674301.1:c.1590G>A | ENSP00000501333.1:p.Glu530= | |
| ENST00000316623.9:c.6591G>A | ENSP00000325527.5:p.Glu2197= | |
| ENST00000537463.6:c.*2354G>A | ENSP00000440294.2:n.*2354G>A | |
| ENST00000559133.5:c.1898G>A | ||
| NM_000138.4:c.6591G>A , LRG_778t1:c.6591G>A | NP_000129.3:p.Glu2197= | |
| NM_000138.5:c.6591G>A MANE Select | NP_000129.3:p.Glu2197= |