Linked Data
ClinVar Variation Id:
548999
dbSNP Id:
rs752010116
ExAC:
15:48812973 G / A
gnomAD v2:
15-48812973-G-A
gnomAD v4:
15-48520776-G-A
COSMIC:
COSM4055331
ERepo:
CA043398/MONDO:0007947/022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48520776G>A , CM000677.2:g.48520776G>A | GRCh38 |
| NC_000015.9:g.48812973G>A , CM000677.1:g.48812973G>A | GRCh37 |
| NC_000015.8:g.46600265G>A | NCBI36 |
| NG_008805.2:g.130013C>T , LRG_778:g.130013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.1030C>T | ENSP00000453958.2:p.Arg344Cys | |
| ENST00000674301.2:c.1030C>T | ENSP00000501333.2:p.Arg344Cys | |
| ENST00000316623.10:c.1030C>T MANE Select | ENSP00000325527.5:p.Arg344Cys | |
| ENST00000316623.9:c.1030C>T | ENSP00000325527.5:p.Arg344Cys | |
| ENST00000537463.6:c.636+16935C>T | ENSP00000440294.2:n.636+16935C>T | |
| NM_000138.4:c.1030C>T , LRG_778t1:c.1030C>T | NP_000129.3:p.Arg344Cys | |
| NM_000138.5:c.1030C>T MANE Select | NP_000129.3:p.Arg344Cys |