Linked Data
dbSNP Id:
rs768206442
ExAC:
17:67249758 A / C
gnomAD v2:
17-67249758-A-C
gnomAD v4:
17-69253617-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.69253617A>C , CM000679.2:g.69253617A>C | GRCh38 |
| NC_000017.10:g.67249758A>C , CM000679.1:g.67249758A>C | GRCh37 |
| NC_000017.9:g.64761353A>C | NCBI36 |
| NG_034199.1:g.78566T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392676.8:c.4371T>G MANE Select | ENSP00000376443.2:p.Asp1457Glu | |
| ENST00000392676.7:c.4371T>G | ENSP00000376443.2:p.Asp1457Glu | |
| ENST00000586811.1:c.1269T>G | ENSP00000465351.1:p.Asp423Glu | |
| ENST00000586995.5:c.3433T>G | ENSP00000467251.1:n.3433T>G | |
| ENST00000588877.5:c.4371T>G | ENSP00000467882.1:p.Asp1457Glu | |
| ENST00000591234.5:c.2313T>G | ENSP00000465766.1:n.2313T>G | |
| NM_018672.4:c.4371T>G | NP_061142.2:p.Asp1457Glu | |
| NM_172232.3:c.4371T>G | NP_758424.1:p.Asp1457Glu | |
| NM_172232.4:c.4371T>G MANE Select | NP_758424.1:p.Asp1457Glu | |
| NM_018672.5:c.4371T>G | NP_061142.2:p.Asp1457Glu |