Linked Data
ClinVar Variation Id:
92488
dbSNP Id:
rs1042395
ExAC:
17:78079669 G / A
gnomAD v2:
17-78079669-G-A
gnomAD v3:
17-80105870-G-A
gnomAD v4:
17-80105870-G-A
ERepo:
CA145791/MONDO:0009290/010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80105870G>A , CM000679.2:g.80105870G>A | GRCh38 |
| NC_000017.10:g.78079669G>A , CM000679.1:g.78079669G>A | GRCh37 |
| NC_000017.9:g.75694264G>A | NCBI36 |
| NG_009822.1:g.9315G>A , LRG_673:g.9315G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.668G>A | ENSP00000460543.2:p.Arg223His | |
| ENST00000572080.2:c.668G>A | ENSP00000459972.2:p.Arg223His | |
| ENST00000577106.6:c.668G>A | ENSP00000458306.2:p.Arg223His | |
| ENST00000302262.8:c.668G>A MANE Select | ENSP00000305692.3:p.Arg223His | |
| ENST00000302262.7:c.668G>A | ENSP00000305692.3:p.Arg223His | |
| ENST00000390015.7:c.668G>A | ENSP00000374665.3:p.Arg223His | |
| ENST00000570803.5:c.668G>A | ENSP00000460543.1:p.Arg223His | |
| NM_000152.3:c.668G>A , LRG_673t1:c.668G>A | NP_000143.2:p.Arg223His | |
| NM_001079803.1:c.668G>A | NP_001073271.1:p.Arg223His | |
| NM_001079804.1:c.668G>A | NP_001073272.1:p.Arg223His | |
| XM_005257193.1:c.668G>A | XP_005257250.1:p.Arg223His | |
| XM_005257194.3:c.668G>A | XP_005257251.1:p.Arg223His | |
| NM_000152.4:c.668G>A | NP_000143.2:p.Arg223His | |
| NM_001079803.2:c.668G>A | NP_001073271.1:p.Arg223His | |
| NM_001079804.2:c.668G>A | NP_001073272.1:p.Arg223His | |
| XM_005257193.2:c.668G>A | XP_005257250.1:p.Arg223His | |
| XM_005257194.4:c.668G>A | XP_005257251.1:p.Arg223His | |
| NM_000152.5:c.668G>A MANE Select | NP_000143.2:p.Arg223His | |
| NM_001079803.3:c.668G>A | NP_001073271.1:p.Arg223His | |
| NM_001079804.3:c.668G>A | NP_001073272.1:p.Arg223His |