Linked Data
ClinVar Variation Id:
434856
dbSNP Id:
rs778830884
ExAC:
17:8131547 C / T
gnomAD v2:
17-8131547-C-T
gnomAD v3:
17-8228229-C-T
gnomAD v4:
17-8228229-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8228229C>T , CM000679.2:g.8228229C>T | GRCh38 |
| NC_000017.10:g.8131547C>T , CM000679.1:g.8131547C>T | GRCh37 |
| NC_000017.9:g.8072272C>T | NCBI36 |
| NG_032148.1:g.24867G>A | |
| NG_032148.2:g.24867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.3341G>A | ENSP00000462607.2:p.Arg1114Gln | |
| ENST00000581729.2:c.3374G>A | ENSP00000462720.2:p.Arg1125Gln | |
| ENST00000699849.1:c.2477G>A | ENSP00000514647.1:p.Arg826Gln | |
| ENST00000699850.1:n.3537G>A | ||
| ENST00000699851.1:n.4491G>A | ||
| ENST00000699852.1:c.*2118G>A | ENSP00000514648.1:n.*2118G>A | |
| ENST00000699853.1:c.*190G>A | ENSP00000514649.1:n.*190G>A | |
| ENST00000699854.1:n.4164G>A | ||
| ENST00000699855.1:n.4728G>A | ||
| ENST00000699856.1:c.*556G>A | ENSP00000514650.1:n.*556G>A | |
| ENST00000699857.1:n.4184G>A | ||
| ENST00000699858.1:c.*2889G>A | ENSP00000514651.1:n.*2889G>A | |
| ENST00000699859.1:c.*341G>A | ENSP00000514652.1:n.*341G>A | |
| ENST00000699860.1:n.2283G>A | ||
| ENST00000699861.1:n.4068G>A | ||
| ENST00000449476.7:c.*339G>A | ENSP00000396018.2:n.*339G>A | |
| ENST00000581671.2:n.3594G>A | ||
| ENST00000643543.1:c.*2312G>A | ENSP00000494323.1:n.*2312G>A | |
| ENST00000651323.1:c.3605G>A MANE Select | ENSP00000498499.1:p.Arg1202Gln | |
| ENST00000315684.12:c.3605G>A | ENSP00000313759.8:p.Arg1202Gln | |
| ENST00000449476.6:c.*339G>A | ENSP00000396018.2:n.*339G>A | |
| ENST00000581729.1:c.322G>A | ||
| NM_025099.5:c.3605G>A | NP_079375.3:p.Arg1202Gln | |
| NR_046431.1:n.3494G>A | ||
| XM_006721577.2:c.3476G>A | XP_006721640.1:p.Arg1159Gln | |
| XM_006721578.2:c.3374G>A | XP_006721641.1:p.Arg1125Gln | |
| XM_011524010.1:c.3500G>A | XP_011522312.1:p.Arg1167Gln | |
| XM_011524011.1:c.2708G>A | XP_011522313.1:p.Arg903Gln | |
| XR_429823.2:n.3482G>A | ||
| XR_429824.2:n.3583G>A | ||
| NM_025099.6:c.3605G>A MANE Select | NP_079375.3:p.Arg1202Gln | |
| XM_006721577.3:c.3476G>A | XP_006721640.1:p.Arg1159Gln | |
| XM_006721578.3:c.3374G>A | XP_006721641.1:p.Arg1125Gln | |
| XM_011524010.2:c.3500G>A | XP_011522312.1:p.Arg1167Gln | |
| XM_011524011.2:c.2708G>A | XP_011522313.1:p.Arg903Gln | |
| XR_001752639.1:n.3456G>A | ||
| XR_001752640.1:n.3604G>A | ||
| XR_001752641.1:n.3539G>A | ||
| XR_001752642.1:n.3389G>A | ||
| XR_002958073.1:n.3895G>A | ||
| XR_429823.3:n.3482G>A | ||
| XR_429824.3:n.3583G>A | ||
| NR_046431.2:n.3455G>A |