Linked Data
ClinVar Variation Id:
42587
dbSNP Id:
rs397515939
ExAC:
11:47361309 G / A
gnomAD v2:
11-47361309-G-A
gnomAD v3:
11-47339758-G-A
gnomAD v4:
11-47339758-G-A
PubMed:
PMID:21750094
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47339758G>A , CM000673.2:g.47339758G>A | GRCh38 |
| NC_000011.9:g.47361309G>A , CM000673.1:g.47361309G>A | GRCh37 |
| NC_000011.8:g.47317885G>A | NCBI36 |
| NG_007667.1:g.17945C>T , LRG_386:g.17945C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1960C>T MANE Select | ENSP00000442795.1:p.Arg654Cys | |
| ENST00000256993.8:c.1960C>T | ENSP00000256993.5:p.Arg654Cys | |
| ENST00000399249.6:c.1960C>T | ENSP00000382193.2:p.Arg654Cys | |
| ENST00000544791.1:c.1960C>T | ENSP00000444259.1:p.Arg654Cys | |
| ENST00000545968.5:c.1960C>T | ENSP00000442795.1:p.Arg654Cys | |
| NM_000256.3:c.1960C>T , LRG_386t1:c.1960C>T MANE Select | NP_000247.2:p.Arg654Cys | |
| XM_011520117.1:c.1942C>T | XP_011518419.1:p.Arg648Cys | |
| XM_011520118.1:c.1960C>T | XP_011518420.1:p.Arg654Cys |