Linked Data
ClinVar Variation Id:
347583
ClinVar RCV Id:
RCV000278022
dbSNP Id:
rs886059082
gnomAD v2:
4-140395590-G-A
gnomAD v3:
4-139474436-G-A
gnomAD v4:
4-139474436-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139474436G>A , CM000666.2:g.139474436G>A | GRCh38 |
| NC_000004.11:g.140395590G>A , CM000666.1:g.140395590G>A | GRCh37 |
| NC_000004.10:g.140615040G>A | NCBI36 |
| NG_051587.1:g.26205G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305626.6:c.*1310G>A MANE Select | ENSP00000306496.5:n.*1310G>A | |
| ENST00000652268.1:c.*1310G>A | ENSP00000498778.1:n.*1310G>A | |
| ENST00000305626.5:c.*1310G>A | ENSP00000306496.5:n.*1310G>A | |
| NM_031296.1:c.*1310G>A | NP_112586.1:n.*1310G>A | |
| XM_011532299.1:c.*1310G>A | XP_011530601.1:n.*1310G>A | |
| NM_031296.2:c.*1310G>A | NP_112586.1:n.*1310G>A | |
| NM_031296.3:c.*1310G>A MANE Select | NP_112586.1:n.*1310G>A |