Linked Data
ClinVar Variation Id:
1374616
dbSNP Id:
rs1862133511
gnomAD v3:
11-61446039-G-T
gnomAD v4:
11-61446039-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446039G>T , CM000673.2:g.61446039G>T | GRCh38 |
| NC_000011.9:g.61213511G>T , CM000673.1:g.61213511G>T | GRCh37 |
| NC_000011.8:g.60970087G>T | NCBI36 |
| NG_023393.1:g.20915G>T , LRG_519:g.20915G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.469G>T MANE Select | ENSP00000301761.3:p.Asp157Tyr | |
| ENST00000301761.6:c.469G>T | ENSP00000301761.2:p.Asp157Tyr | |
| ENST00000536670.5:n.396+7926G>T | ||
| ENST00000537782.5:c.*115G>T | ENSP00000469951.1:n.*115G>T | |
| ENST00000538594.5:c.370+7926G>T | ENSP00000440939.1:n.370+7926G>T | |
| ENST00000541135.5:c.377+7919G>T | ENSP00000443130.1:n.377+7919G>T | |
| ENST00000542074.1:c.*48G>T | ENSP00000469670.1:n.*48G>T | |
| ENST00000542794.5:c.*471G>T | ENSP00000439983.1:n.*471G>T | |
| ENST00000543044.2:c.433G>T | ENSP00000440219.1:p.Asp145Tyr | |
| ENST00000543265.1:c.*92G>T | ENSP00000443660.1:n.*92G>T | |
| ENST00000544025.5:n.465+7926G>T | ||
| ENST00000544801.5:c.370+7926G>T | ENSP00000442581.1:n.370+7926G>T | |
| ENST00000544880.1:n.374+7926G>T | ||
| NM_017841.2:c.469G>T , LRG_519t1:c.469G>T | NP_060311.1:p.Asp157Tyr | |
| NM_017841.4:c.469G>T MANE Select | NP_060311.1:p.Asp157Tyr |