Linked Data
ClinVar Variation Id:
384344
dbSNP Id:
rs779749926
ExAC:
15:48725078 G / A
gnomAD v2:
15-48725078-G-A
gnomAD v3:
15-48432881-G-A
gnomAD v4:
15-48432881-G-A
COSMIC:
COSM3386910
ERepo:
CA057276/MONDO:0007947/022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48432881G>A , CM000677.2:g.48432881G>A | GRCh38 |
| NC_000015.9:g.48725078G>A , CM000677.1:g.48725078G>A | GRCh37 |
| NC_000015.8:g.46512370G>A | NCBI36 |
| NG_008805.2:g.217908C>T , LRG_778:g.217908C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6724C>T | ENSP00000453958.2:p.Arg2242Cys | |
| ENST00000674301.2:c.*175C>T | ENSP00000501333.2:n.*175C>T | |
| ENST00000682170.1:n.333C>T | ||
| ENST00000316623.10:c.6724C>T MANE Select | ENSP00000325527.5:p.Arg2242Cys | |
| ENST00000674301.1:c.1828C>T | ENSP00000501333.1:n.1828C>T | |
| ENST00000316623.9:c.6724C>T | ENSP00000325527.5:p.Arg2242Cys | |
| ENST00000537463.6:c.*2487C>T | ENSP00000440294.2:n.*2487C>T | |
| ENST00000559133.5:c.2031C>T | ||
| ENST00000560720.1:n.11C>T | ||
| NM_000138.4:c.6724C>T , LRG_778t1:c.6724C>T | NP_000129.3:p.Arg2242Cys | |
| NM_000138.5:c.6724C>T MANE Select | NP_000129.3:p.Arg2242Cys |