Linked Data
ClinVar Variation Id:
2680858
ClinVar RCV Id:
RCV003468498
dbSNP Id:
rs760669036
ExAC:
3:15512054 G / A
gnomAD v2:
3-15512054-G-A
gnomAD v3:
3-15470547-G-A
gnomAD v4:
3-15470547-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15470547G>A , CM000665.2:g.15470547G>A | GRCh38 |
| NC_000003.11:g.15512054G>A , CM000665.1:g.15512054G>A | GRCh37 |
| NC_000003.10:g.15487058G>A | NCBI36 |
| NG_009032.1:g.56205C>T | |
| NG_009032.2:g.56205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383788.10:c.706C>T MANE Select | ENSP00000373298.3:p.Arg236Ter | |
| ENST00000604401.2:n.702C>T | ||
| ENST00000679838.1:c.*468C>T | ENSP00000505708.1:n.*468C>T | |
| ENST00000680545.1:n.472C>T | ||
| ENST00000681097.1:c.706C>T | ENSP00000505397.1:p.Arg236Ter | |
| ENST00000383781.8:c.676C>T | ENSP00000373291.3:p.Arg226Ter | |
| ENST00000383786.9:c.604C>T | ENSP00000373296.3:p.Arg202Ter | |
| ENST00000383788.9:c.706C>T | ENSP00000373298.3:p.Arg236Ter | |
| ENST00000603808.5:c.706C>T | ENSP00000474271.1:p.Arg236Ter | |
| ENST00000605797.1:c.535C>T | ENSP00000474936.1:p.Arg179Ter | |
| NM_005677.3:c.706C>T | NP_005668.2:p.Arg236Ter | |
| NM_080538.2:c.676C>T | NP_536799.1:p.Arg226Ter | |
| NM_080539.3:c.604C>T | NP_536800.2:p.Arg202Ter | |
| NM_005677.4:c.706C>T MANE Select | NP_005668.2:p.Arg236Ter | |
| NM_080539.4:c.604C>T | NP_536800.2:p.Arg202Ter |