Linked Data
ClinVar Variation Id:
92486
ClinVar RCV Id:
RCV002354274
dbSNP Id:
rs1042393
ExAC:
17:78079597 A / G
gnomAD v2:
17-78079597-A-G
gnomAD v3:
17-80105798-A-G
gnomAD v4:
17-80105798-A-G
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80105798A>G , CM000679.2:g.80105798A>G | GRCh38 |
| NC_000017.10:g.78079597A>G , CM000679.1:g.78079597A>G | GRCh37 |
| NC_000017.9:g.75694192A>G | NCBI36 |
| NG_009822.1:g.9243A>G , LRG_673:g.9243A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570803.6:c.596A>G | ENSP00000460543.2:p.His199Arg | |
| ENST00000572080.2:c.596A>G | ENSP00000459972.2:p.His199Arg | |
| ENST00000577106.6:c.596A>G | ENSP00000458306.2:p.His199Arg | |
| ENST00000302262.8:c.596A>G MANE Select | ENSP00000305692.3:p.His199Arg | |
| ENST00000302262.7:c.596A>G | ENSP00000305692.3:p.His199Arg | |
| ENST00000390015.7:c.596A>G | ENSP00000374665.3:p.His199Arg | |
| ENST00000570803.5:c.596A>G | ENSP00000460543.1:p.His199Arg | |
| ENST00000577106.5:c.596A>G | ENSP00000458306.1:p.His199Arg | |
| NM_000152.3:c.596A>G , LRG_673t1:c.596A>G | NP_000143.2:p.His199Arg | |
| NM_001079803.1:c.596A>G | NP_001073271.1:p.His199Arg | |
| NM_001079804.1:c.596A>G | NP_001073272.1:p.His199Arg | |
| XM_005257193.1:c.596A>G | XP_005257250.1:p.His199Arg | |
| XM_005257194.3:c.596A>G | XP_005257251.1:p.His199Arg | |
| NM_000152.4:c.596A>G | NP_000143.2:p.His199Arg | |
| NM_001079803.2:c.596A>G | NP_001073271.1:p.His199Arg | |
| NM_001079804.2:c.596A>G | NP_001073272.1:p.His199Arg | |
| XM_005257193.2:c.596A>G | XP_005257250.1:p.His199Arg | |
| XM_005257194.4:c.596A>G | XP_005257251.1:p.His199Arg | |
| NM_000152.5:c.596A>G MANE Select | NP_000143.2:p.His199Arg | |
| NM_001079803.3:c.596A>G | NP_001073271.1:p.His199Arg | |
| NM_001079804.3:c.596A>G | NP_001073272.1:p.His199Arg |