Linked Data
ClinVar Variation Id:
317287
dbSNP Id:
rs199627578
ExAC:
15:89843040 A / G
gnomAD v2:
15-89843040-A-G
gnomAD v3:
15-89299809-A-G
gnomAD v4:
15-89299809-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89299809A>G , CM000677.2:g.89299809A>G | GRCh38 |
| NC_000015.9:g.89843040A>G , CM000677.1:g.89843040A>G | GRCh37 |
| NC_000015.8:g.87644044A>G | NCBI36 |
| NG_011736.1:g.60847A>G , LRG_500:g.60847A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.2367A>G | ENSP00000512830.1:p.Leu789= | |
| ENST00000696718.1:c.2109A>G | ENSP00000512831.1:p.Leu703= | |
| ENST00000696719.1:c.2646A>G | ENSP00000512832.1:p.Leu882= | |
| ENST00000696721.1:n.611A>G | ||
| ENST00000310775.12:c.2646A>G MANE Select | ENSP00000310842.8:p.Leu882= | |
| ENST00000674831.1:c.2646A>G | ENSP00000502474.1:p.Leu882= | |
| ENST00000676003.1:c.2604A>G | ENSP00000502254.1:p.Leu868= | |
| ENST00000300027.12:c.2466A>G | ENSP00000300027.8:p.Leu822= | |
| ENST00000310775.11:c.2646A>G | ENSP00000310842.7:p.Leu882= | |
| ENST00000447611.6:c.2466A>G | ENSP00000413249.2:p.Leu822= | |
| ENST00000561894.1:c.1945A>G | ||
| ENST00000565522.5:n.130-13095A>G | ||
| ENST00000566895.5:n.2653A>G | ||
| NM_001113378.1:c.2646A>G , LRG_500t1:c.2646A>G | NP_001106849.1:p.Leu882= | |
| NM_018193.2:c.2466A>G | NP_060663.2:p.Leu822= | |
| XM_011521756.1:c.2646A>G | XP_011520058.1:p.Leu882= | |
| XM_011521757.1:c.2646A>G | XP_011520059.1:p.Leu882= | |
| XM_011521758.1:c.2646A>G | XP_011520060.1:p.Leu882= | |
| XM_011521759.1:c.2646A>G | XP_011520061.1:p.Leu882= | |
| XM_011521760.1:c.2646A>G | XP_011520062.1:p.Leu882= | |
| XM_011521761.1:c.2646A>G | XP_011520063.1:p.Leu882= | |
| XM_011521762.1:c.2646A>G | XP_011520064.1:p.Leu882= | |
| XM_011521763.1:c.2604A>G | XP_011520065.1:p.Leu868= | |
| XM_011521764.1:c.2466A>G | XP_011520066.1:p.Leu822= | |
| XM_011521765.1:c.2367A>G | XP_011520067.1:p.Leu789= | |
| XM_011521766.1:c.2367A>G | XP_011520068.1:p.Leu789= | |
| XM_011521767.1:c.2367A>G | XP_011520069.1:p.Leu789= | |
| XM_011521768.1:c.2646A>G | XP_011520070.1:p.Leu882= | |
| XM_011521769.1:c.2301A>G | XP_011520071.1:p.Leu767= | |
| XM_011521756.2:c.2646A>G | XP_011520058.1:p.Leu882= | |
| XM_011521757.2:c.2646A>G | XP_011520059.1:p.Leu882= | |
| XM_011521764.2:c.2466A>G | XP_011520066.1:p.Leu822= | |
| XM_011521767.2:c.2367A>G | XP_011520069.1:p.Leu789= | |
| NM_001113378.2:c.2646A>G MANE Select | NP_001106849.1:p.Leu882= | |
| NM_001376910.1:c.2367A>G | NP_001363839.1:p.Leu789= | |
| NM_001376911.1:c.2646A>G | NP_001363840.1:p.Leu882= | |
| NM_018193.3:c.2466A>G | NP_060663.2:p.Leu822= |