Linked Data
ClinVar Variation Id:
224173
dbSNP Id:
rs146180696
ExAC:
20:6078218 C / A
gnomAD v2:
20-6078218-C-A
gnomAD v3:
20-6097571-C-A
gnomAD v4:
20-6097571-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6097571C>A , CM000682.2:g.6097571C>A | GRCh38 |
| NC_000020.10:g.6078218C>A , CM000682.1:g.6078218C>A | GRCh37 |
| NC_000020.9:g.6026218C>A | NCBI36 |
| NG_016213.1:g.30974G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699095.1:c.910G>T | ENSP00000514127.1:p.Glu304Ter | |
| ENST00000699096.1:n.1372G>T | ||
| ENST00000699097.1:n.80G>T | ||
| ENST00000217289.9:c.910G>T MANE Select | ENSP00000217289.4:p.Glu304Ter | |
| ENST00000217289.8:c.910G>T | ENSP00000217289.4:p.Glu304Ter | |
| ENST00000536936.1:c.139G>T | ENSP00000441063.1:p.Glu47Ter | |
| NM_017671.4:c.910G>T | NP_060141.3:p.Glu304Ter | |
| XM_024451935.1:c.910G>T | XP_024307703.1:p.Glu304Ter | |
| NM_017671.5:c.910G>T MANE Select | NP_060141.3:p.Glu304Ter |