Linked Data
ClinVar Variation Id:
316361
ClinVar RCV Id:
RCV000289209
RCV000311376
RCV000349902
RCV000341750
RCV000346461
RCV000382367
RCV000395298
RCV000400407
RCV001697752
RCV001850674
RCV004537780
dbSNP Id:
rs200822151
ExAC:
15:48703579 G / A
gnomAD v2:
15-48703579-G-A
gnomAD v3:
15-48411382-G-A
gnomAD v4:
15-48411382-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411382G>A , CM000677.2:g.48411382G>A | GRCh38 |
| NC_000015.9:g.48703579G>A , CM000677.1:g.48703579G>A | GRCh37 |
| NC_000015.8:g.46490871G>A | NCBI36 |
| NG_008805.2:g.239407C>T , LRG_778:g.239407C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1035-3C>T | ENSP00000453958.2:n.*1035-3C>T | |
| ENST00000674301.2:c.*1740-3C>T | ENSP00000501333.2:n.*1740-3C>T | |
| ENST00000682158.1:n.1608-3C>T | ||
| ENST00000682170.1:n.2408-3C>T | ||
| ENST00000682767.1:n.1524-3C>T | ||
| ENST00000316623.10:c.8227-3C>T MANE Select | ENSP00000325527.5:n.8227-3C>T | |
| ENST00000674301.1:c.3393-3C>T | ENSP00000501333.1:n.3393-3C>T | |
| ENST00000316623.9:c.8227-3C>T | ENSP00000325527.5:n.8227-3C>T | |
| ENST00000559133.5:c.3596-3C>T | ||
| ENST00000561429.1:n.482-3C>T | ||
| NM_000138.4:c.8227-3C>T , LRG_778t1:c.8227-3C>T | NP_000129.3:n.8227-3C>T | |
| NM_000138.5:c.8227-3C>T MANE Select | NP_000129.3:n.8227-3C>T |