Linked Data
ClinVar Variation Id:
281930
dbSNP Id:
rs141256626
ExAC:
7:286402 A / G
gnomAD v2:
7-286402-A-G
gnomAD v3:
7-246436-A-G
gnomAD v4:
7-246436-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.246436A>G , CM000669.2:g.246436A>G | GRCh38 |
| NC_000007.13:g.286402A>G , CM000669.1:g.286402A>G | GRCh37 |
| NG_033970.1:g.56072A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.885A>G MANE Select | ENSP00000322323.5:p.Thr295= | |
| ENST00000313766.5:c.885A>G | ENSP00000322323.5:p.Thr295= | |
| ENST00000515795.1:n.542A>G | ||
| NM_020223.3:c.885A>G | NP_064608.2:p.Thr295= | |
| XR_242097.3:n.1032A>G | ||
| XM_017012450.1:c.1146A>G | XP_016867939.1:p.Thr382= | |
| XM_017012451.1:c.1143A>G | XP_016867940.1:p.Thr381= | |
| XM_017012452.1:c.1146A>G | XP_016867941.1:p.Thr382= | |
| XM_017012455.2:c.183A>G | XP_016867944.1:p.Thr61= | |
| XR_001744837.1:n.1032A>G | ||
| NM_020223.4:c.885A>G MANE Select | NP_064608.2:p.Thr295= |