Linked Data
ClinVar Variation Id:
317285
dbSNP Id:
rs886051512
gnomAD v3:
15-89292876-G-A
gnomAD v4:
15-89292876-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89292876G>A , CM000677.2:g.89292876G>A | GRCh38 |
| NC_000015.9:g.89836107G>A , CM000677.1:g.89836107G>A | GRCh37 |
| NC_000015.8:g.87637111G>A | NCBI36 |
| NG_011736.1:g.53914G>A , LRG_500:g.53914G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696717.1:c.1890+12G>A | ENSP00000512830.1:n.1890+12G>A | |
| ENST00000696718.1:c.1632+12G>A | ENSP00000512831.1:n.1632+12G>A | |
| ENST00000696719.1:c.2169+12G>A | ENSP00000512832.1:n.2169+12G>A | |
| ENST00000310775.12:c.2169+12G>A MANE Select | ENSP00000310842.8:n.2169+12G>A | |
| ENST00000674831.1:c.2169+12G>A | ENSP00000502474.1:n.2169+12G>A | |
| ENST00000676003.1:c.2169+12G>A | ENSP00000502254.1:n.2169+12G>A | |
| ENST00000300027.12:c.2169+12G>A | ENSP00000300027.8:n.2169+12G>A | |
| ENST00000310775.11:c.2169+12G>A | ENSP00000310842.7:n.2169+12G>A | |
| ENST00000447611.6:c.2169+12G>A | ENSP00000413249.2:n.2169+12G>A | |
| ENST00000561894.1:c.1648+12G>A | ||
| ENST00000565522.5:n.130-20028G>A | ||
| ENST00000566895.5:n.2176+12G>A | ||
| NM_001113378.1:c.2169+12G>A , LRG_500t1:c.2169+12G>A | NP_001106849.1:n.2169+12G>A | |
| NM_018193.2:c.2169+12G>A | NP_060663.2:n.2169+12G>A | |
| XM_011521756.1:c.2169+12G>A | XP_011520058.1:n.2169+12G>A | |
| XM_011521757.1:c.2169+12G>A | XP_011520059.1:n.2169+12G>A | |
| XM_011521758.1:c.2169+12G>A | XP_011520060.1:n.2169+12G>A | |
| XM_011521759.1:c.2169+12G>A | XP_011520061.1:n.2169+12G>A | |
| XM_011521760.1:c.2169+12G>A | XP_011520062.1:n.2169+12G>A | |
| XM_011521761.1:c.2169+12G>A | XP_011520063.1:n.2169+12G>A | |
| XM_011521762.1:c.2169+12G>A | XP_011520064.1:n.2169+12G>A | |
| XM_011521763.1:c.2169+12G>A | XP_011520065.1:n.2169+12G>A | |
| XM_011521764.1:c.2169+12G>A | XP_011520066.1:n.2169+12G>A | |
| XM_011521765.1:c.1890+12G>A | XP_011520067.1:n.1890+12G>A | |
| XM_011521766.1:c.1890+12G>A | XP_011520068.1:n.1890+12G>A | |
| XM_011521767.1:c.1890+12G>A | XP_011520069.1:n.1890+12G>A | |
| XM_011521768.1:c.2169+12G>A | XP_011520070.1:n.2169+12G>A | |
| XM_011521769.1:c.2169+12G>A | XP_011520071.1:n.2169+12G>A | |
| XM_011521756.2:c.2169+12G>A | XP_011520058.1:n.2169+12G>A | |
| XM_011521757.2:c.2169+12G>A | XP_011520059.1:n.2169+12G>A | |
| XM_011521764.2:c.2169+12G>A | XP_011520066.1:n.2169+12G>A | |
| XM_011521767.2:c.1890+12G>A | XP_011520069.1:n.1890+12G>A | |
| NM_001113378.2:c.2169+12G>A MANE Select | NP_001106849.1:n.2169+12G>A | |
| NM_001376910.1:c.1890+12G>A | NP_001363839.1:n.1890+12G>A | |
| NM_001376911.1:c.2169+12G>A | NP_001363840.1:n.2169+12G>A | |
| NM_018193.3:c.2169+12G>A | NP_060663.2:n.2169+12G>A |