Linked Data
ClinVar Variation Id:
370139
dbSNP Id:
rs762730861
ExAC:
15:34546548 C / T
gnomAD v2:
15-34546548-C-T
gnomAD v4:
15-34254347-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34254347C>T , CM000677.2:g.34254347C>T | GRCh38 |
| NC_000015.9:g.34546548C>T , CM000677.1:g.34546548C>T | GRCh37 |
| NC_000015.8:g.32333840C>T | NCBI36 |
| NG_007951.1:g.88718G>A , LRG_270:g.88718G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.1118+1G>A MANE Select | ENSP00000346112.3:n.1118+1G>A | |
| ENST00000675289.1:n.1900+1G>A | ||
| ENST00000676379.1:c.1118+1G>A | ENSP00000502539.1:n.1118+1G>A | |
| ENST00000290209.9:c.965+1G>A | ENSP00000290209.5:n.965+1G>A | |
| ENST00000354181.7:c.1118+1G>A | ENSP00000346112.3:n.1118+1G>A | |
| ENST00000397702.6:c.941+1G>A | ENSP00000380814.2:n.941+1G>A | |
| ENST00000397707.6:c.1073+1G>A | ENSP00000380819.2:n.1073+1G>A | |
| ENST00000458406.6:c.941+1G>A | ENSP00000387725.2:n.941+1G>A | |
| ENST00000558589.5:c.1091+1G>A | ENSP00000452776.1:n.1091+1G>A | |
| ENST00000558667.5:c.1118+1G>A | ENSP00000453473.1:n.1118+1G>A | |
| ENST00000559523.5:c.941+1G>A | ENSP00000452904.1:n.941+1G>A | |
| ENST00000559664.5:c.1118+1G>A | ENSP00000453702.1:n.1118+1G>A | |
| ENST00000560164.5:c.554+1G>A | ENSP00000452705.1:n.554+1G>A | |
| ENST00000560611.5:c.1118+1G>A | ENSP00000454168.1:n.1118+1G>A | |
| ENST00000561080.5:c.1118+1G>A | ENSP00000454069.1:n.1118+1G>A | |
| NM_001042494.1:c.941+1G>A | NP_001035959.1:n.941+1G>A | |
| NM_001042495.1:c.941+1G>A | NP_001035960.1:n.941+1G>A | |
| NM_001042496.1:c.1091+1G>A | NP_001035961.1:n.1091+1G>A | |
| NM_001042497.1:c.1073+1G>A | NP_001035962.1:n.1073+1G>A | |
| NM_005135.2:c.965+1G>A , LRG_270t1:c.965+1G>A | NP_005126.1:n.965+1G>A | |
| NM_133647.1:c.1118+1G>A , LRG_270t2:c.1118+1G>A | NP_598408.1:n.1118+1G>A | |
| XM_006720793.2:c.971+1G>A | XP_006720856.1:n.971+1G>A | |
| XM_011522267.1:c.1118+1G>A | XP_011520569.1:n.1118+1G>A | |
| XM_011522268.1:c.1118+1G>A | XP_011520570.1:n.1118+1G>A | |
| XM_011522269.1:c.1118+1G>A | XP_011520571.1:n.1118+1G>A | |
| XR_429476.2:n.1124+1G>A | ||
| XR_931960.1:n.1124+1G>A | ||
| XR_931961.1:n.1124+1G>A | ||
| NM_001365088.1:c.1118+1G>A MANE Select | NP_001352017.1:n.1118+1G>A | |
| XM_006720793.4:c.971+1G>A | XP_006720856.1:n.971+1G>A | |
| XM_011522269.3:c.1118+1G>A | XP_011520571.1:n.1118+1G>A | |
| XR_931960.3:n.2368+1G>A | ||
| NM_001042494.2:c.941+1G>A | NP_001035959.1:n.941+1G>A | |
| NM_001042495.2:c.941+1G>A | NP_001035960.1:n.941+1G>A | |
| NM_001042496.2:c.1091+1G>A | NP_001035961.1:n.1091+1G>A | |
| NM_001042497.2:c.1073+1G>A | NP_001035962.1:n.1073+1G>A | |
| NM_133647.2:c.1118+1G>A | NP_598408.1:n.1118+1G>A |