Linked Data
ClinVar Variation Id:
499380
dbSNP Id:
rs200524747
ExAC:
17:78078930 C / G
gnomAD v2:
17-78078930-C-G
gnomAD v3:
17-80105131-C-G
gnomAD v4:
17-80105131-C-G
MyVariant Identifiers:
chr17:g.78078930C>G (hg19)
chr17:g.78078930_78078934delinsGGGTG (hg19)
chr17:g.80105131C>G (hg38)
ERepo:
CA8814893/MONDO:0009290/010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80105131C>G , CM000679.2:g.80105131C>G | GRCh38 |
| NC_000017.10:g.78078930C>G , CM000679.1:g.78078930C>G | GRCh37 |
| NC_000017.9:g.75693525C>G | NCBI36 |
| NG_009822.1:g.8576C>G , LRG_673:g.8576C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.545C>G | ENSP00000460543.2:p.Thr182Arg | |
| ENST00000572080.2:c.545C>G | ENSP00000459972.2:p.Thr182Arg | |
| ENST00000577106.6:c.545C>G | ENSP00000458306.2:p.Thr182Arg | |
| ENST00000302262.8:c.545C>G MANE Select | ENSP00000305692.3:p.Thr182Arg | |
| ENST00000302262.7:c.545C>G | ENSP00000305692.3:p.Thr182Arg | |
| ENST00000390015.7:c.545C>G | ENSP00000374665.3:p.Thr182Arg | |
| ENST00000570803.5:c.545C>G | ENSP00000460543.1:p.Thr182Arg | |
| ENST00000577106.5:c.545C>G | ENSP00000458306.1:p.Thr182Arg | |
| NM_000152.3:c.545C>G , LRG_673t1:c.545C>G | NP_000143.2:p.Thr182Arg | |
| NM_001079803.1:c.545C>G | NP_001073271.1:p.Thr182Arg | |
| NM_001079804.1:c.545C>G | NP_001073272.1:p.Thr182Arg | |
| XM_005257193.1:c.545C>G | XP_005257250.1:p.Thr182Arg | |
| XM_005257194.3:c.545C>G | XP_005257251.1:p.Thr182Arg | |
| NM_000152.4:c.545C>G | NP_000143.2:p.Thr182Arg | |
| NM_001079803.2:c.545C>G | NP_001073271.1:p.Thr182Arg | |
| NM_001079804.2:c.545C>G | NP_001073272.1:p.Thr182Arg | |
| XM_005257193.2:c.545C>G | XP_005257250.1:p.Thr182Arg | |
| XM_005257194.4:c.545C>G | XP_005257251.1:p.Thr182Arg | |
| NM_000152.5:c.545C>G MANE Select | NP_000143.2:p.Thr182Arg | |
| NM_001079803.3:c.545C>G | NP_001073271.1:p.Thr182Arg | |
| NM_001079804.3:c.545C>G | NP_001073272.1:p.Thr182Arg |