Linked Data
dbSNP Id:
rs187980012
ExAC:
15:99452048 G / T
gnomAD v2:
15-99452048-G-T
gnomAD v4:
15-98908819-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98908819G>T , CM000677.2:g.98908819G>T | GRCh38 |
| NC_000015.9:g.99452048G>T , CM000677.1:g.99452048G>T | GRCh37 |
| NC_000015.8:g.97269571G>T | NCBI36 |
| NG_009492.1:g.264288G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.1382G>T | ENSP00000496919.1:p.Arg461Leu | |
| ENST00000650285.1:c.1382G>T MANE Select | ENSP00000497069.1:p.Arg461Leu | |
| ENST00000268035.10:c.1382G>T | ENSP00000268035.6:p.Arg461Leu | |
| ENST00000558762.5:c.1382G>T | ENSP00000453007.1:p.Arg461Leu | |
| ENST00000558898.1:c.473G>T | ENSP00000454115.1:p.Arg158Leu | |
| ENST00000559582.1:n.289G>T | ||
| ENST00000559925.5:n.1382G>T | ||
| NM_000875.4:c.1382G>T | NP_000866.1:p.Arg461Leu | |
| NM_001291858.1:c.1382G>T | NP_001278787.1:p.Arg461Leu | |
| XM_011521513.1:c.1445G>T | XP_011519815.1:p.Arg482Leu | |
| XM_011521514.1:c.1445G>T | XP_011519816.1:p.Arg482Leu | |
| XM_011521515.1:c.1445G>T | XP_011519817.1:p.Arg482Leu | |
| XM_011521516.1:c.473G>T | XP_011519818.1:p.Arg158Leu | |
| XM_011521517.1:c.47G>T | XP_011519819.1:p.Arg16Leu | |
| XM_011521516.2:c.473G>T | XP_011519818.1:p.Arg158Leu | |
| XM_011521517.2:c.47G>T | XP_011519819.1:p.Arg16Leu | |
| XM_017022136.1:c.1457G>T | XP_016877625.1:p.Arg486Leu | |
| XM_017022137.1:c.1457G>T | XP_016877626.1:p.Arg486Leu | |
| XM_017022138.1:c.1457G>T | XP_016877627.1:p.Arg486Leu | |
| XM_017022139.1:c.1019G>T | XP_016877628.1:p.Arg340Leu | |
| XM_024449913.1:c.473G>T | XP_024305681.1:p.Arg158Leu | |
| NM_000875.5:c.1382G>T MANE Select | NP_000866.1:p.Arg461Leu | |
| NM_001291858.2:c.1382G>T | NP_001278787.1:p.Arg461Leu |