Linked Data
ClinVar Variation Id:
13303
ClinVar RCV Id:
RCV002468924
dbSNP Id:
rs121918477
ExAC:
11:46748113 C / T
gnomAD v2:
11-46748113-C-T
gnomAD v4:
11-46726563-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46726563C>T , CM000673.2:g.46726563C>T | GRCh38 |
| NC_000011.9:g.46748113C>T , CM000673.1:g.46748113C>T | GRCh37 |
| NC_000011.8:g.46704689C>T | NCBI36 |
| NG_008953.1:g.12371C>T , LRG_551:g.12371C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311907.10:c.940C>T MANE Select | ENSP00000308541.5:p.Arg314Cys | |
| ENST00000311907.9:c.940C>T | ENSP00000308541.5:p.Arg314Cys | |
| ENST00000442468.1:c.910C>T | ENSP00000387413.1:p.Arg304Cys | |
| ENST00000530231.5:c.940C>T | ENSP00000433907.1:p.Arg314Cys | |
| NM_000506.3:c.940C>T | NP_000497.1:p.Arg314Cys | |
| NM_000506.4:c.940C>T , LRG_551t1:c.940C>T | NP_000497.1:p.Arg314Cys | |
| NM_001311257.1:c.892C>T | NP_001298186.1:p.Arg298Cys | |
| XR_428840.2:n.984C>T | ||
| XR_428840.4:n.975C>T | ||
| NM_000506.5:c.940C>T MANE Select | NP_000497.1:p.Arg314Cys | |
| NM_001311257.2:c.892C>T | NP_001298186.1:p.Arg298Cys |