Linked Data
ClinVar Variation Id:
11999
dbSNP Id:
rs104894563
ExAC:
17:41063252 C / T
gnomAD v2:
17-41063252-C-T
gnomAD v3:
17-42911235-C-T
gnomAD v4:
17-42911235-C-T
COSMIC:
COSM1252915
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911235C>T , CM000679.2:g.42911235C>T | GRCh38 |
| NC_000017.10:g.41063252C>T , CM000679.1:g.41063252C>T | GRCh37 |
| NC_000017.9:g.38316778C>T | NCBI36 |
| NG_011808.1:g.15438C>T , LRG_147:g.15438C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253801.7:c.883C>T MANE Select | ENSP00000253801.1:p.Arg295Cys | |
| ENST00000253801.6:c.883C>T | ENSP00000253801.1:p.Arg295Cys | |
| ENST00000585489.1:c.*275C>T | ENSP00000466202.1:n.*275C>T | |
| ENST00000592383.5:c.*275C>T | ENSP00000465958.1:n.*275C>T | |
| NM_000151.3:c.883C>T | NP_000142.2:p.Arg295Cys | |
| NM_001270397.1:c.*275C>T | NP_001257326.1:n.*275C>T | |
| NM_000151.4:c.883C>T MANE Select | NP_000142.2:p.Arg295Cys | |
| NM_001270397.2:c.*275C>T | NP_001257326.1:n.*275C>T |