Linked Data
ClinVar Variation Id:
316360
ClinVar RCV Id:
RCV000304890
RCV000308744
RCV000314675
RCV000345706
RCV000368154
RCV000399142
RCV000399944
RCV000534883
RCV001083530
RCV002278421
dbSNP Id:
rs112189340
ExAC:
15:48703493 G / A
gnomAD v2:
15-48703493-G-A
gnomAD v3:
15-48411296-G-A
gnomAD v4:
15-48411296-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411296G>A , CM000677.2:g.48411296G>A | GRCh38 |
| NC_000015.9:g.48703493G>A , CM000677.1:g.48703493G>A | GRCh37 |
| NC_000015.8:g.46490785G>A | NCBI36 |
| NG_008805.2:g.239493C>T , LRG_778:g.239493C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1118C>T | ENSP00000453958.2:n.*1118C>T | |
| ENST00000674301.2:c.*1823C>T | ENSP00000501333.2:n.*1823C>T | |
| ENST00000682158.1:n.1691C>T | ||
| ENST00000682170.1:n.2491C>T | ||
| ENST00000682767.1:n.1607C>T | ||
| ENST00000316623.10:c.8310C>T MANE Select | ENSP00000325527.5:p.His2770= | |
| ENST00000674301.1:c.3476C>T | ENSP00000501333.1:n.3476C>T | |
| ENST00000316623.9:c.8310C>T | ENSP00000325527.5:p.His2770= | |
| ENST00000559133.5:c.3679C>T | ||
| ENST00000561429.1:n.565C>T | ||
| NM_000138.4:c.8310C>T , LRG_778t1:c.8310C>T | NP_000129.3:p.His2770= | |
| NM_000138.5:c.8310C>T MANE Select | NP_000129.3:p.His2770= |