Linked Data
ClinVar Variation Id:
527224
ClinVar RCV Id:
RCV000632046
dbSNP Id:
rs1555393567
gnomAD v4:
15-48411359-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411359G>A , CM000677.2:g.48411359G>A | GRCh38 |
| NC_000015.9:g.48703556G>A , CM000677.1:g.48703556G>A | GRCh37 |
| NC_000015.8:g.46490848G>A | NCBI36 |
| NG_008805.2:g.239430C>T , LRG_778:g.239430C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1055C>T | ENSP00000453958.2:n.*1055C>T | |
| ENST00000674301.2:c.*1760C>T | ENSP00000501333.2:n.*1760C>T | |
| ENST00000682158.1:n.1628C>T | ||
| ENST00000682170.1:n.2428C>T | ||
| ENST00000682767.1:n.1544C>T | ||
| ENST00000316623.10:c.8247C>T MANE Select | ENSP00000325527.5:p.Ala2749= | |
| ENST00000674301.1:c.3413C>T | ENSP00000501333.1:n.3413C>T | |
| ENST00000316623.9:c.8247C>T | ENSP00000325527.5:p.Ala2749= | |
| ENST00000559133.5:c.3616C>T | ||
| ENST00000561429.1:n.502C>T | ||
| NM_000138.4:c.8247C>T , LRG_778t1:c.8247C>T | NP_000129.3:p.Ala2749= | |
| NM_000138.5:c.8247C>T MANE Select | NP_000129.3:p.Ala2749= |