Linked Data
ClinVar Variation Id:
495659
dbSNP Id:
rs772795413
ExAC:
15:48704851 G / A
gnomAD v2:
15-48704851-G-A
gnomAD v3:
15-48412654-G-A
gnomAD v4:
15-48412654-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412654G>A , CM000677.2:g.48412654G>A | GRCh38 |
| NC_000015.9:g.48704851G>A , CM000677.1:g.48704851G>A | GRCh37 |
| NC_000015.8:g.46492143G>A | NCBI36 |
| NG_008805.2:g.238135C>T , LRG_778:g.238135C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*949C>T | ENSP00000453958.2:n.*949C>T | |
| ENST00000674301.2:c.*1654C>T | ENSP00000501333.2:n.*1654C>T | |
| ENST00000682158.1:n.1522C>T | ||
| ENST00000682170.1:n.2322C>T | ||
| ENST00000682767.1:n.1438C>T | ||
| ENST00000316623.10:c.8141C>T MANE Select | ENSP00000325527.5:p.Ala2714Val | |
| ENST00000674301.1:c.3307C>T | ENSP00000501333.1:n.3307C>T | |
| ENST00000316623.9:c.8141C>T | ENSP00000325527.5:p.Ala2714Val | |
| ENST00000559133.5:c.3510C>T | ||
| ENST00000561429.1:n.396C>T | ||
| NM_000138.4:c.8141C>T , LRG_778t1:c.8141C>T | NP_000129.3:p.Ala2714Val | |
| NM_000138.5:c.8141C>T MANE Select | NP_000129.3:p.Ala2714Val |