Linked Data
ClinVar Variation Id:
340363
dbSNP Id:
rs530625182
ExAC:
21:47532426 G / A
gnomAD v2:
21-47532426-G-A
gnomAD v3:
21-46112512-G-A
gnomAD v4:
21-46112512-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46112512G>A , CM000683.2:g.46112512G>A | GRCh38 |
| NC_000021.8:g.47532426G>A , CM000683.1:g.47532426G>A | GRCh37 |
| NC_000021.7:g.46356854G>A | NCBI36 |
| NG_008675.1:g.19394G>A , LRG_476:g.19394G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.649G>A MANE Plus Clinical | ENSP00000380870.1:p.Ala217Thr | |
| ENST00000300527.9:c.649G>A MANE Select | ENSP00000300527.4:p.Ala217Thr | |
| ENST00000409416.6:c.649G>A | ENSP00000387115.1:p.Ala217Thr | |
| ENST00000300527.8:c.649G>A | ENSP00000300527.4:p.Ala217Thr | |
| ENST00000310645.9:c.649G>A | ENSP00000312529.5:p.Ala217Thr | |
| ENST00000397763.5:c.649G>A | ENSP00000380870.1:p.Ala217Thr | |
| ENST00000409416.5:c.649G>A | ENSP00000387115.1:p.Ala217Thr | |
| ENST00000460886.1:n.95G>A | ||
| NM_001849.3:c.649G>A , LRG_476t1:c.649G>A | NP_001840.3:p.Ala217Thr | |
| NM_058174.2:c.649G>A | NP_478054.2:p.Ala217Thr | |
| NM_058175.2:c.649G>A | NP_478055.2:p.Ala217Thr | |
| XM_011529451.1:c.649G>A | XP_011527753.1:p.Ala217Thr | |
| XM_011529452.1:c.649G>A | XP_011527754.1:p.Ala217Thr | |
| XR_937438.1:n.772G>A | ||
| XR_937439.1:n.772G>A | ||
| XR_937438.2:n.779G>A | ||
| XR_937439.2:n.779G>A | ||
| NM_001849.4:c.649G>A MANE Select | NP_001840.3:p.Ala217Thr | |
| NM_058174.3:c.649G>A MANE Plus Clinical | NP_478054.2:p.Ala217Thr | |
| NM_058175.3:c.649G>A | NP_478055.2:p.Ala217Thr |