Linked Data
ClinVar Variation Id:
746393
ClinVar RCV Id:
RCV000923001
dbSNP Id:
rs758387902
ExAC:
20:3063408 G / A
gnomAD v2:
20-3063408-G-A
gnomAD v3:
20-3082762-G-A
gnomAD v4:
20-3082762-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082762G>A , CM000682.2:g.3082762G>A | GRCh38 |
| NC_000020.10:g.3063408G>A , CM000682.1:g.3063408G>A | GRCh37 |
| NC_000020.9:g.3011408G>A | NCBI36 |
| NG_008663.1:g.6963C>T , LRG_715:g.6963C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.363C>T MANE Select | ENSP00000369647.3:p.His121= | |
| NM_000490.4:c.363C>T , LRG_715t1:c.363C>T | NP_000481.2:p.His121= | |
| XM_011529267.1:c.363C>T | XP_011527569.1:p.His121= | |
| XM_011529267.2:c.363C>T | XP_011527569.1:p.His121= | |
| NM_000490.5:c.363C>T MANE Select | NP_000481.2:p.His121= |