Linked Data
ClinVar Variation Id:
225059
dbSNP Id:
rs144201778
ExAC:
20:2375205 A / T
gnomAD v2:
20-2375205-A-T
gnomAD v3:
20-2394559-A-T
gnomAD v4:
20-2394559-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2394559A>T , CM000682.2:g.2394559A>T | GRCh38 |
| NC_000020.10:g.2375205A>T , CM000682.1:g.2375205A>T | GRCh37 |
| NC_000020.9:g.2323205A>T | NCBI36 |
| NG_031917.1:g.18652A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000202625.7:c.115A>T MANE Select | ENSP00000202625.2:p.Ser39Cys | |
| ENST00000202625.6:c.115A>T | ENSP00000202625.2:p.Ser39Cys | |
| ENST00000381423.1:c.115A>T | ENSP00000370831.1:p.Ser39Cys | |
| ENST00000477505.1:n.108A>T | ||
| NM_001254734.1:c.115A>T | NP_001241663.1:p.Ser39Cys | |
| NM_198994.2:c.115A>T | NP_945345.2:p.Ser39Cys | |
| NM_001254734.2:c.115A>T | NP_001241663.1:p.Ser39Cys | |
| NM_198994.3:c.115A>T MANE Select | NP_945345.2:p.Ser39Cys |