Linked Data
ClinVar Variation Id:
347585
ClinVar RCV Id:
RCV000387519
dbSNP Id:
rs114169513
gnomAD v2:
4-140396031-G-T
gnomAD v3:
4-139474877-G-T
gnomAD v4:
4-139474877-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139474877G>T , CM000666.2:g.139474877G>T | GRCh38 |
| NC_000004.11:g.140396031G>T , CM000666.1:g.140396031G>T | GRCh37 |
| NC_000004.10:g.140615481G>T | NCBI36 |
| NG_051587.1:g.26646G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305626.6:c.*1751G>T MANE Select | ENSP00000306496.5:n.*1751G>T | |
| ENST00000652268.1:c.*1751G>T | ENSP00000498778.1:n.*1751G>T | |
| ENST00000305626.5:c.*1751G>T | ENSP00000306496.5:n.*1751G>T | |
| NM_031296.1:c.*1751G>T | NP_112586.1:n.*1751G>T | |
| XM_011532299.1:c.*1751G>T | XP_011530601.1:n.*1751G>T | |
| NM_031296.2:c.*1751G>T | NP_112586.1:n.*1751G>T | |
| NM_031296.3:c.*1751G>T MANE Select | NP_112586.1:n.*1751G>T |