Linked Data
ClinVar Variation Id:
547350
ClinVar RCV Id:
RCV000659588
dbSNP Id:
rs1555393524
gnomAD v4:
15-48411115-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411115T>A , CM000677.2:g.48411115T>A | GRCh38 |
| NC_000015.9:g.48703312T>A , CM000677.1:g.48703312T>A | GRCh37 |
| NC_000015.8:g.46490604T>A | NCBI36 |
| NG_008805.2:g.239674A>T , LRG_778:g.239674A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1299A>T | ENSP00000453958.2:n.*1299A>T | |
| ENST00000674301.2:c.*2004A>T | ENSP00000501333.2:n.*2004A>T | |
| ENST00000682158.1:n.1872A>T | ||
| ENST00000682170.1:n.2672A>T | ||
| ENST00000682767.1:n.1788A>T | ||
| ENST00000316623.10:c.8491A>T MANE Select | ENSP00000325527.5:p.Ile2831Phe | |
| ENST00000674301.1:c.3657A>T | ENSP00000501333.1:n.3657A>T | |
| ENST00000316623.9:c.8491A>T | ENSP00000325527.5:p.Ile2831Phe | |
| ENST00000559133.5:c.3860A>T | ||
| NM_000138.4:c.8491A>T , LRG_778t1:c.8491A>T | NP_000129.3:p.Ile2831Phe | |
| NM_000138.5:c.8491A>T MANE Select | NP_000129.3:p.Ile2831Phe |