Linked Data
ClinVar Variation Id:
349759
dbSNP Id:
rs569422992
ExAC:
4:79396631 G / A
gnomAD v2:
4-79396631-G-A
gnomAD v3:
4-78475477-G-A
gnomAD v4:
4-78475477-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78475477G>A , CM000666.2:g.78475477G>A | GRCh38 |
| NC_000004.11:g.79396631G>A , CM000666.1:g.79396631G>A | GRCh37 |
| NC_000004.10:g.79615655G>A | NCBI36 |
| NG_015812.1:g.422908G>A | |
| NG_015812.2:g.422908G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.7722G>A | ENSP00000508201.1:p.Thr2574= | |
| ENST00000512123.4:c.7722G>A MANE Select | ENSP00000422834.2:p.Thr2574= | |
| ENST00000512123.3:c.7722G>A | ENSP00000422834.2:p.Thr2574= | |
| NM_025074.6:c.7722G>A | NP_079350.5:p.Thr2574= | |
| XM_006714314.1:c.7716G>A | XP_006714377.1:p.Thr2572= | |
| XM_006714316.1:c.7494G>A | XP_006714379.1:p.Thr2498= | |
| XM_011532270.1:c.5421G>A | XP_011530572.1:p.Thr1807= | |
| XM_011532271.1:c.2610G>A | XP_011530573.1:p.Thr870= | |
| XM_006714316.3:c.7494G>A | XP_006714379.1:p.Thr2498= | |
| NM_025074.7:c.7722G>A MANE Select | NP_079350.5:p.Thr2574= |