Linked Data
ClinVar Variation Id:
5378
ClinVar RCV Id:
RCV000005709
dbSNP Id:
rs267606650
ExAC:
7:137792252 C / T
gnomAD v2:
7-137792252-C-T
gnomAD v3:
7-138107506-C-T
gnomAD v4:
7-138107506-C-T
COSMIC:
COSM177700
PubMed:
PMID:15030995
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138107506C>T , CM000669.2:g.138107506C>T | GRCh38 |
| NC_000007.13:g.137792252C>T , CM000669.1:g.137792252C>T | GRCh37 |
| NC_000007.12:g.137442792C>T | NCBI36 |
| NG_023342.1:g.36075C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242375.8:c.781C>T MANE Select | ENSP00000242375.3:p.Arg261Cys | |
| ENST00000242375.7:c.781C>T | ENSP00000242375.3:p.Arg261Cys | |
| ENST00000411726.6:c.658C>T | ENSP00000402374.2:p.Arg220Cys | |
| ENST00000432161.5:c.781C>T | ENSP00000389197.1:p.Arg261Cys | |
| ENST00000468877.2:n.804C>T | ||
| NM_001190906.1:c.658C>T | NP_001177835.1:p.Arg220Cys | |
| NM_001190907.1:c.781C>T | NP_001177836.1:p.Arg261Cys | |
| NM_005989.3:c.781C>T | NP_005980.1:p.Arg261Cys | |
| NM_005989.4:c.781C>T MANE Select | NP_005980.1:p.Arg261Cys | |
| NM_001190906.2:c.658C>T | NP_001177835.1:p.Arg220Cys | |
| NM_001190907.2:c.781C>T | NP_001177836.1:p.Arg261Cys |