Linked Data
ClinVar Variation Id:
519783
dbSNP Id:
rs765387131
ExAC:
15:48744786 G / A
gnomAD v2:
15-48744786-G-A
gnomAD v3:
15-48452589-G-A
gnomAD v4:
15-48452589-G-A
COSMIC:
COSM1206710
ERepo:
CA055122/MONDO:0007947/022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48452589G>A , CM000677.2:g.48452589G>A | GRCh38 |
| NC_000015.9:g.48744786G>A , CM000677.1:g.48744786G>A | GRCh37 |
| NC_000015.8:g.46532078G>A | NCBI36 |
| NG_008805.2:g.198200C>T , LRG_778:g.198200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5518C>T | ENSP00000453958.2:p.Arg1840Cys | |
| ENST00000674301.2:c.5518C>T | ENSP00000501333.2:p.Arg1840Cys | |
| ENST00000684448.1:n.4192C>T | ||
| ENST00000316623.10:c.5518C>T MANE Select | ENSP00000325527.5:p.Arg1840Cys | |
| ENST00000674301.1:c.517C>T | ENSP00000501333.1:p.Arg173Cys | |
| ENST00000316623.9:c.5518C>T | ENSP00000325527.5:p.Arg1840Cys | |
| ENST00000537463.6:c.*1281C>T | ENSP00000440294.2:n.*1281C>T | |
| ENST00000559133.5:c.825C>T | ||
| NM_000138.4:c.5518C>T , LRG_778t1:c.5518C>T | NP_000129.3:p.Arg1840Cys | |
| NM_000138.5:c.5518C>T MANE Select | NP_000129.3:p.Arg1840Cys |