Linked Data
ClinVar Variation Id:
2141437
ClinVar RCV Id:
RCV003056959
dbSNP Id:
rs1285661778
gnomAD v2:
11-61213519-G-A
gnomAD v3:
11-61446047-G-A
gnomAD v4:
11-61446047-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446047G>A , CM000673.2:g.61446047G>A | GRCh38 |
| NC_000011.9:g.61213519G>A , CM000673.1:g.61213519G>A | GRCh37 |
| NC_000011.8:g.60970095G>A | NCBI36 |
| NG_023393.1:g.20923G>A , LRG_519:g.20923G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.477G>A MANE Select | ENSP00000301761.3:p.Glu159= | |
| ENST00000301761.6:c.477G>A | ENSP00000301761.2:p.Glu159= | |
| ENST00000536670.5:n.396+7934G>A | ||
| ENST00000537782.5:c.*123G>A | ENSP00000469951.1:n.*123G>A | |
| ENST00000538594.5:c.370+7934G>A | ENSP00000440939.1:n.370+7934G>A | |
| ENST00000541135.5:c.377+7927G>A | ENSP00000443130.1:n.377+7927G>A | |
| ENST00000542074.1:c.*56G>A | ENSP00000469670.1:n.*56G>A | |
| ENST00000542794.5:c.*479G>A | ENSP00000439983.1:n.*479G>A | |
| ENST00000543044.2:c.441G>A | ENSP00000440219.1:p.Glu147= | |
| ENST00000543265.1:c.*100G>A | ENSP00000443660.1:n.*100G>A | |
| ENST00000544025.5:n.465+7934G>A | ||
| ENST00000544801.5:c.370+7934G>A | ENSP00000442581.1:n.370+7934G>A | |
| ENST00000544880.1:n.374+7934G>A | ||
| NM_017841.2:c.477G>A , LRG_519t1:c.477G>A | NP_060311.1:p.Glu159= | |
| NM_017841.4:c.477G>A MANE Select | NP_060311.1:p.Glu159= |