Linked Data
ClinVar Variation Id:
476452
dbSNP Id:
rs749974929
ExAC:
21:47541468 A / G
gnomAD v2:
21-47541468-A-G
gnomAD v4:
21-46121554-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46121554A>G , CM000683.2:g.46121554A>G | GRCh38 |
| NC_000021.8:g.47541468A>G , CM000683.1:g.47541468A>G | GRCh37 |
| NC_000021.7:g.46365896A>G | NCBI36 |
| NG_008675.1:g.28436A>G , LRG_476:g.28436A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.1459-2A>G MANE Plus Clinical | ENSP00000380870.1:n.1459-2A>G | |
| ENST00000300527.9:c.1459-2A>G MANE Select | ENSP00000300527.4:n.1459-2A>G | |
| ENST00000409416.6:c.1459-2A>G | ENSP00000387115.1:n.1459-2A>G | |
| ENST00000300527.8:c.1459-2A>G | ENSP00000300527.4:n.1459-2A>G | |
| ENST00000310645.9:c.1459-2A>G | ENSP00000312529.5:n.1459-2A>G | |
| ENST00000397763.5:c.1459-2A>G | ENSP00000380870.1:n.1459-2A>G | |
| ENST00000409416.5:c.1459-2A>G | ENSP00000387115.1:n.1459-2A>G | |
| ENST00000413758.1:c.82-2A>G | ENSP00000395751.1:n.82-2A>G | |
| NM_001849.3:c.1459-2A>G , LRG_476t1:c.1459-2A>G | NP_001840.3:n.1459-2A>G | |
| NM_058174.2:c.1459-2A>G | NP_478054.2:n.1459-2A>G | |
| NM_058175.2:c.1459-2A>G | NP_478055.2:n.1459-2A>G | |
| XM_011529451.1:c.1459-2A>G | XP_011527753.1:n.1459-2A>G | |
| XM_011529452.1:c.1459-2A>G | XP_011527754.1:n.1459-2A>G | |
| XR_937438.1:n.1582-2A>G | ||
| XR_937439.1:n.1582-2A>G | ||
| XR_937438.2:n.1589-2A>G | ||
| XR_937439.2:n.1589-2A>G | ||
| NM_001849.4:c.1459-2A>G MANE Select | NP_001840.3:n.1459-2A>G | |
| NM_058174.3:c.1459-2A>G MANE Plus Clinical | NP_478054.2:n.1459-2A>G | |
| NM_058175.3:c.1459-2A>G | NP_478055.2:n.1459-2A>G |