Linked Data
ClinVar Variation Id:
529175
dbSNP Id:
rs754510180
ExAC:
17:8134766 C / G
gnomAD v2:
17-8134766-C-G
gnomAD v3:
17-8231448-C-G
gnomAD v4:
17-8231448-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8231448C>G , CM000679.2:g.8231448C>G | GRCh38 |
| NC_000017.10:g.8134766C>G , CM000679.1:g.8134766C>G | GRCh37 |
| NC_000017.9:g.8075491C>G | NCBI36 |
| NG_032148.1:g.21648G>C | |
| NG_032148.2:g.21648G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.2497G>C | ENSP00000462607.2:p.Asp833His | |
| ENST00000581729.2:c.2497G>C | ENSP00000462720.2:p.Asp833His | |
| ENST00000581967.2:n.2949G>C | ||
| ENST00000583254.2:n.3546G>C | ||
| ENST00000699849.1:c.1600G>C | ENSP00000514647.1:p.Asp534His | |
| ENST00000699850.1:n.1760G>C | ||
| ENST00000699851.1:n.2519G>C | ||
| ENST00000699852.1:c.*1173G>C | ENSP00000514648.1:n.*1173G>C | |
| ENST00000699853.1:c.2497G>C | ENSP00000514649.1:p.Asp833His | |
| ENST00000699854.1:n.2290G>C | ||
| ENST00000699855.1:n.2949G>C | ||
| ENST00000699856.1:c.2497G>C | ENSP00000514650.1:p.Asp833His | |
| ENST00000699857.1:n.2505G>C | ||
| ENST00000699858.1:c.*1110G>C | ENSP00000514651.1:n.*1110G>C | |
| ENST00000699859.1:c.2368G>C | ENSP00000514652.1:p.Asp790His | |
| ENST00000699860.1:n.581+278G>C | ||
| ENST00000699861.1:n.2519G>C | ||
| ENST00000699862.1:n.3457G>C | ||
| ENST00000449476.7:c.2392G>C | ENSP00000396018.2:p.Asp798His | |
| ENST00000581671.2:n.2486G>C | ||
| ENST00000643543.1:c.*1204G>C | ENSP00000494323.1:n.*1204G>C | |
| ENST00000651323.1:c.2497G>C MANE Select | ENSP00000498499.1:p.Asp833His | |
| ENST00000315684.12:c.2497G>C | ENSP00000313759.8:p.Asp833His | |
| ENST00000449476.6:c.2392G>C | ENSP00000396018.2:p.Asp798His | |
| ENST00000578240.1:n.725G>C | ||
| ENST00000578537.1:c.371+278G>C | ||
| NM_025099.5:c.2497G>C | NP_079375.3:p.Asp833His | |
| NR_046431.1:n.2451G>C | ||
| XM_006721577.2:c.2368G>C | XP_006721640.1:p.Asp790His | |
| XM_006721578.2:c.2497G>C | XP_006721641.1:p.Asp833His | |
| XM_006721579.2:c.2497G>C | XP_006721642.1:p.Asp833His | |
| XM_011524010.1:c.2392G>C | XP_011522312.1:p.Asp798His | |
| XM_011524011.1:c.1600G>C | XP_011522313.1:p.Asp534His | |
| XR_429823.2:n.2540G>C | ||
| XR_429824.2:n.2540G>C | ||
| XR_429825.1:n.2518+278G>C | ||
| NM_025099.6:c.2497G>C MANE Select | NP_079375.3:p.Asp833His | |
| XM_006721577.3:c.2368G>C | XP_006721640.1:p.Asp790His | |
| XM_006721578.3:c.2497G>C | XP_006721641.1:p.Asp833His | |
| XM_011524010.2:c.2392G>C | XP_011522312.1:p.Asp798His | |
| XM_011524011.2:c.1600G>C | XP_011522313.1:p.Asp534His | |
| XR_001752639.1:n.2411G>C | ||
| XR_001752640.1:n.2540G>C | ||
| XR_001752641.1:n.2540G>C | ||
| XR_001752642.1:n.2518+278G>C | ||
| XR_001752643.1:n.2970G>C | ||
| XR_002958073.1:n.2518+278G>C | ||
| XR_429823.3:n.2540G>C | ||
| XR_429824.3:n.2540G>C | ||
| NR_046431.2:n.2412G>C |