Linked Data
ClinVar Variation Id:
3390
dbSNP Id:
rs28942096
gnomAD v3:
3-46709155-C-T
gnomAD v4:
3-46709155-C-T
PubMed:
PMID:12145746
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46709155C>T , CM000665.2:g.46709155C>T | GRCh38 |
| NC_000003.11:g.46750645C>T , CM000665.1:g.46750645C>T | GRCh37 |
| NC_000003.10:g.46725649C>T | NCBI36 |
| NG_011628.1:g.12823C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643606.3:c.241C>T MANE Select | ENSP00000494576.2:p.Arg81Cys | |
| ENST00000644830.1:c.82C>T | ENSP00000495111.1:p.Arg28Cys | |
| ENST00000651652.1:c.139C>T | ENSP00000498953.1:p.Arg47Cys | |
| ENST00000326431.3:c.241C>T | ENSP00000324775.3:p.Arg81Cys | |
| NM_147196.2:c.241C>T | NP_671729.2:p.Arg81Cys | |
| XM_006713097.2:c.82C>T | XP_006713160.1:p.Arg28Cys | |
| XM_011533574.1:c.82C>T | XP_011531876.1:p.Arg28Cys | |
| XM_006713097.4:c.82C>T | XP_006713160.1:p.Arg28Cys | |
| XM_024453446.1:c.82C>T | XP_024309214.1:p.Arg28Cys | |
| NM_001370524.1:c.82C>T | NP_001357453.1:p.Arg28Cys | |
| NM_001370525.1:c.82C>T | NP_001357454.1:p.Arg28Cys | |
| NM_147196.3:c.241C>T MANE Select | NP_671729.2:p.Arg81Cys |