Linked Data
ClinVar Variation Id:
502161
dbSNP Id:
rs570232197
gnomAD v2:
4-52894220-G-A
gnomAD v3:
4-52028054-G-A
gnomAD v4:
4-52028054-G-A
COSMIC:
COSM1429990
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028054G>A , CM000666.2:g.52028054G>A | GRCh38 |
| NC_000004.11:g.52894220G>A , CM000666.1:g.52894220G>A | GRCh37 |
| NC_000004.10:g.52588977G>A | NCBI36 |
| NG_008891.1:g.15266C>T , LRG_204:g.15266C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.667C>T MANE Select | ENSP00000370839.6:p.Arg223Cys | |
| ENST00000381431.9:c.667C>T | ENSP00000370839.5:p.Arg223Cys | |
| NM_000232.4:c.667C>T , LRG_204t1:c.667C>T | NP_000223.1:p.Arg223Cys | |
| XM_006714049.2:c.370C>T | XP_006714112.1:p.Arg124Cys | |
| XM_011534403.1:c.457C>T | XP_011532705.1:p.Arg153Cys | |
| XM_011534404.1:c.370C>T | XP_011532706.1:p.Arg124Cys | |
| NM_000232.5:c.667C>T MANE Select | NP_000223.1:p.Arg223Cys |