Linked Data
dbSNP Id:
rs867480105
gnomAD v2:
7-137776547-C-T
gnomAD v3:
7-138091801-C-T
gnomAD v4:
7-138091801-C-T
COSMIC:
COSM1488266
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138091801C>T , CM000669.2:g.138091801C>T | GRCh38 |
| NC_000007.13:g.137776547C>T , CM000669.1:g.137776547C>T | GRCh37 |
| NC_000007.12:g.137427087C>T | NCBI36 |
| NG_023342.1:g.20370C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242375.8:c.295C>T MANE Select | ENSP00000242375.3:p.Arg99Cys | |
| ENST00000242375.7:c.295C>T | ENSP00000242375.3:p.Arg99Cys | |
| ENST00000411726.6:c.295C>T | ENSP00000402374.2:p.Arg99Cys | |
| ENST00000432161.5:c.295C>T | ENSP00000389197.1:p.Arg99Cys | |
| ENST00000438242.1:c.127C>T | ENSP00000397042.1:p.Arg43Cys | |
| ENST00000468877.2:n.222-17C>T | ||
| NM_001190906.1:c.295C>T | NP_001177835.1:p.Arg99Cys | |
| NM_001190907.1:c.295C>T | NP_001177836.1:p.Arg99Cys | |
| NM_005989.3:c.295C>T | NP_005980.1:p.Arg99Cys | |
| NM_005989.4:c.295C>T MANE Select | NP_005980.1:p.Arg99Cys | |
| NM_001190906.2:c.295C>T | NP_001177835.1:p.Arg99Cys | |
| NM_001190907.2:c.295C>T | NP_001177836.1:p.Arg99Cys |