Linked Data
ClinVar Variation Id:
527209
dbSNP Id:
rs1485432119
gnomAD v2:
15-48802352-A-T
gnomAD v4:
15-48510155-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48510155A>T , CM000677.2:g.48510155A>T | GRCh38 |
| NC_000015.9:g.48802352A>T , CM000677.1:g.48802352A>T | GRCh37 |
| NC_000015.8:g.46589644A>T | NCBI36 |
| NG_008805.2:g.140634T>A , LRG_778:g.140634T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.1603T>A | ENSP00000453958.2:p.Leu535Ile | |
| ENST00000674301.2:c.1603T>A | ENSP00000501333.2:p.Leu535Ile | |
| ENST00000684448.1:n.277T>A | ||
| ENST00000316623.10:c.1603T>A MANE Select | ENSP00000325527.5:p.Leu535Ile | |
| ENST00000316623.9:c.1603T>A | ENSP00000325527.5:p.Leu535Ile | |
| ENST00000537463.6:c.636+27556T>A | ENSP00000440294.2:n.636+27556T>A | |
| NM_000138.4:c.1603T>A , LRG_778t1:c.1603T>A | NP_000129.3:p.Leu535Ile | |
| NM_000138.5:c.1603T>A MANE Select | NP_000129.3:p.Leu535Ile |