Linked Data
ClinVar Variation Id:
522204
dbSNP Id:
rs373345919
ExAC:
17:41061381 C / T
gnomAD v2:
17-41061381-C-T
gnomAD v3:
17-42909364-C-T
gnomAD v4:
17-42909364-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909364C>T , CM000679.2:g.42909364C>T | GRCh38 |
| NC_000017.10:g.41061381C>T , CM000679.1:g.41061381C>T | GRCh37 |
| NC_000017.9:g.38314907C>T | NCBI36 |
| NG_011808.1:g.13567C>T , LRG_147:g.13567C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.508C>T MANE Select | ENSP00000253801.1:p.Arg170Ter | |
| ENST00000253801.6:c.508C>T | ENSP00000253801.1:p.Arg170Ter | |
| ENST00000585489.1:c.447-1551C>T | ENSP00000466202.1:n.447-1551C>T | |
| ENST00000592383.5:c.431C>T | ENSP00000465958.1:p.Thr144Met | |
| NM_000151.3:c.508C>T | NP_000142.2:p.Arg170Ter | |
| NM_001270397.1:c.431C>T | NP_001257326.1:p.Thr144Met | |
| NM_000151.4:c.508C>T MANE Select | NP_000142.2:p.Arg170Ter | |
| NM_001270397.2:c.431C>T | NP_001257326.1:p.Thr144Met |