Linked Data
dbSNP Id:
rs137903755
ExAC:
4:81207815 C / T
gnomAD v2:
4-81207815-C-T
gnomAD v3:
4-80286661-C-T
gnomAD v4:
4-80286661-C-T
COSMIC:
COSM3606414
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286661C>T , CM000666.2:g.80286661C>T | GRCh38 |
| NC_000004.11:g.81207815C>T , CM000666.1:g.81207815C>T | GRCh37 |
| NC_000004.10:g.81426839C>T | NCBI36 |
| NG_029501.1:g.25074C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.796C>T MANE Select | ENSP00000311697.7:p.Arg266Cys | |
| ENST00000312465.11:c.796C>T | ENSP00000311697.7:p.Arg266Cys | |
| ENST00000456523.3:c.*320C>T | ENSP00000398353.3:n.*320C>T | |
| ENST00000503413.1:n.745C>T | ||
| ENST00000507780.1:c.342+11649C>T | ENSP00000423903.1:n.342+11649C>T | |
| NM_001291812.1:c.367C>T | NP_001278741.1:p.Arg123Cys | |
| NM_004464.3:c.796C>T | NP_004455.2:p.Arg266Cys | |
| NM_033143.2:c.*320C>T | NP_149134.1:n.*320C>T | |
| NM_001291812.2:c.367C>T | NP_001278741.1:p.Arg123Cys | |
| NM_004464.4:c.796C>T MANE Select | NP_004455.2:p.Arg266Cys |