Linked Data
dbSNP Id:
rs142974781
ExAC:
10:96535263 C / T
gnomAD v2:
10-96535263-C-T
gnomAD v3:
10-94775506-C-T
gnomAD v4:
10-94775506-C-T
COSMIC:
COSM4016871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775506C>T , CM000672.2:g.94775506C>T | GRCh38 |
| NC_000010.10:g.96535263C>T , CM000672.1:g.96535263C>T | GRCh37 |
| NC_000010.9:g.96525253C>T | NCBI36 |
| NG_008384.2:g.17801C>T | |
| NG_008384.3:g.17826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.448C>T MANE Select | ENSP00000360372.3:p.Arg150Cys | |
| ENST00000645461.1:n.1501C>T | ||
| ENST00000371321.7:c.448C>T | ENSP00000360372.3:p.Arg150Cys | |
| ENST00000464755.1:c.1211C>T | ENSP00000483243.1:n.1211C>T | |
| ENST00000480405.2:c.448C>T | ENSP00000483847.1:p.Arg150Cys | |
| NM_000769.2:c.448C>T | NP_000760.1:p.Arg150Cys | |
| NM_000769.4:c.448C>T MANE Select | NP_000760.1:p.Arg150Cys |