Linked Data
ClinVar Variation Id:
3201894
ClinVar RCV Id:
RCV004491239
dbSNP Id:
rs776219511
ExAC:
3:119526221 C / T
gnomAD v2:
3-119526221-C-T
gnomAD v3:
3-119807374-C-T
gnomAD v4:
3-119807374-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119807374C>T , CM000665.2:g.119807374C>T | GRCh38 |
| NC_000003.11:g.119526221C>T , CM000665.1:g.119526221C>T | GRCh37 |
| NC_000003.10:g.121008911C>T | NCBI36 |
| NG_011856.1:g.31891C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.124C>T MANE Select | ENSP00000377319.3:p.Arg42Cys | |
| ENST00000466380.6:c.124C>T | ENSP00000420297.2:p.Arg42Cys | |
| ENST00000648112.1:c.*147C>T | ENSP00000497876.1:n.*147C>T | |
| ENST00000337940.4:c.241C>T | ENSP00000336528.4:p.Arg81Cys | |
| ENST00000393716.6:c.124C>T | ENSP00000377319.2:p.Arg42Cys | |
| ENST00000466380.5:c.124C>T | ENSP00000420297.1:p.Arg42Cys | |
| ENST00000474090.1:n.412C>T | ||
| NM_003889.3:c.124C>T | NP_003880.3:p.Arg42Cys | |
| NM_022002.2:c.241C>T | NP_071285.1:p.Arg81Cys | |
| NM_033013.2:c.124C>T | NP_148934.1:p.Arg42Cys | |
| NM_003889.4:c.124C>T MANE Select | NP_003880.3:p.Arg42Cys | |
| NM_022002.3:c.241C>T | NP_071285.1:p.Arg81Cys | |
| NM_033013.3:c.124C>T | NP_148934.1:p.Arg42Cys |