Linked Data
ClinVar Variation Id:
208639
dbSNP Id:
rs375656231
ExAC:
15:89837194 A / T
gnomAD v2:
15-89837194-A-T
gnomAD v3:
15-89293963-A-T
gnomAD v4:
15-89293963-A-T
PubMed:
PMID:26296701
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89293963A>T , CM000677.2:g.89293963A>T | GRCh38 |
| NC_000015.9:g.89837194A>T , CM000677.1:g.89837194A>T | GRCh37 |
| NC_000015.8:g.87638198A>T | NCBI36 |
| NG_011736.1:g.55001A>T , LRG_500:g.55001A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.2143A>T | ENSP00000512830.1:p.Lys715Ter | |
| ENST00000696718.1:c.1885A>T | ENSP00000512831.1:p.Lys629Ter | |
| ENST00000696719.1:c.2422A>T | ENSP00000512832.1:p.Lys808Ter | |
| ENST00000310775.12:c.2422A>T MANE Select | ENSP00000310842.8:p.Lys808Ter | |
| ENST00000674831.1:c.2422A>T | ENSP00000502474.1:p.Lys808Ter | |
| ENST00000676003.1:c.2422A>T | ENSP00000502254.1:p.Lys808Ter | |
| ENST00000300027.12:c.2422A>T | ENSP00000300027.8:p.Lys808Ter | |
| ENST00000310775.11:c.2422A>T | ENSP00000310842.7:p.Lys808Ter | |
| ENST00000447611.6:c.2422A>T | ENSP00000413249.2:p.Lys808Ter | |
| ENST00000561894.1:c.1901A>T | ||
| ENST00000565522.5:n.130-18941A>T | ||
| ENST00000566895.5:n.2429A>T | ||
| NM_001113378.1:c.2422A>T , LRG_500t1:c.2422A>T | NP_001106849.1:p.Lys808Ter | |
| NM_018193.2:c.2422A>T | NP_060663.2:p.Lys808Ter | |
| XM_011521756.1:c.2422A>T | XP_011520058.1:p.Lys808Ter | |
| XM_011521757.1:c.2422A>T | XP_011520059.1:p.Lys808Ter | |
| XM_011521758.1:c.2422A>T | XP_011520060.1:p.Lys808Ter | |
| XM_011521759.1:c.2422A>T | XP_011520061.1:p.Lys808Ter | |
| XM_011521760.1:c.2422A>T | XP_011520062.1:p.Lys808Ter | |
| XM_011521761.1:c.2422A>T | XP_011520063.1:p.Lys808Ter | |
| XM_011521762.1:c.2422A>T | XP_011520064.1:p.Lys808Ter | |
| XM_011521763.1:c.2422A>T | XP_011520065.1:p.Lys808Ter | |
| XM_011521764.1:c.2422A>T | XP_011520066.1:p.Lys808Ter | |
| XM_011521765.1:c.2143A>T | XP_011520067.1:p.Lys715Ter | |
| XM_011521766.1:c.2143A>T | XP_011520068.1:p.Lys715Ter | |
| XM_011521767.1:c.2143A>T | XP_011520069.1:p.Lys715Ter | |
| XM_011521768.1:c.2422A>T | XP_011520070.1:p.Lys808Ter | |
| XM_011521769.1:c.2291+900A>T | XP_011520071.1:n.2291+900A>T | |
| XM_011521756.2:c.2422A>T | XP_011520058.1:p.Lys808Ter | |
| XM_011521757.2:c.2422A>T | XP_011520059.1:p.Lys808Ter | |
| XM_011521764.2:c.2422A>T | XP_011520066.1:p.Lys808Ter | |
| XM_011521767.2:c.2143A>T | XP_011520069.1:p.Lys715Ter | |
| NM_001113378.2:c.2422A>T MANE Select | NP_001106849.1:p.Lys808Ter | |
| NM_001376910.1:c.2143A>T | NP_001363839.1:p.Lys715Ter | |
| NM_001376911.1:c.2422A>T | NP_001363840.1:p.Lys808Ter | |
| NM_018193.3:c.2422A>T | NP_060663.2:p.Lys808Ter |