Linked Data
ClinVar Variation Id:
225201
dbSNP Id:
rs116855232
ExAC:
13:48619855 C / T
gnomAD v2:
13-48619855-C-T
gnomAD v3:
13-48045719-C-T
gnomAD v4:
13-48045719-C-T
COSMIC:
COSM3999105
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045719C>T , CM000675.2:g.48045719C>T | GRCh38 |
| NC_000013.10:g.48619855C>T , CM000675.1:g.48619855C>T | GRCh37 |
| NC_000013.9:g.47517856C>T | NCBI36 |
| NG_047021.1:g.13153C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.415C>T MANE Select | ENSP00000258662.1:p.Arg139Cys | |
| ENST00000258662.2:c.415C>T | ENSP00000258662.1:p.Arg139Cys | |
| NM_018283.2:c.415C>T | NP_060753.1:p.Arg139Cys | |
| NM_018283.3:c.415C>T | NP_060753.1:p.Arg139Cys | |
| NR_136687.1:n.595C>T | ||
| NR_136688.1:n.595C>T | ||
| NM_018283.4:c.415C>T MANE Select | NP_060753.1:p.Arg139Cys | |
| NR_136687.2:n.436C>T | ||
| NR_136688.2:n.436C>T |