Linked Data
ClinVar Variation Id:
326065
dbSNP Id:
rs760547081
ExAC:
17:8131831 G / A
gnomAD v2:
17-8131831-G-A
gnomAD v3:
17-8228513-G-A
gnomAD v4:
17-8228513-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8228513G>A , CM000679.2:g.8228513G>A | GRCh38 |
| NC_000017.10:g.8131831G>A , CM000679.1:g.8131831G>A | GRCh37 |
| NC_000017.9:g.8072556G>A | NCBI36 |
| NG_032148.1:g.24583C>T | |
| NG_032148.2:g.24583C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.3240C>T | ENSP00000462607.2:p.Ile1080= | |
| ENST00000581729.2:c.3273C>T | ENSP00000462720.2:p.Ile1091= | |
| ENST00000699849.1:c.2376C>T | ENSP00000514647.1:p.Ile792= | |
| ENST00000699850.1:n.3436C>T | ||
| ENST00000699851.1:n.4390C>T | ||
| ENST00000699852.1:c.*2017C>T | ENSP00000514648.1:n.*2017C>T | |
| ENST00000699853.1:c.*89C>T | ENSP00000514649.1:n.*89C>T | |
| ENST00000699854.1:n.4063C>T | ||
| ENST00000699855.1:n.4627C>T | ||
| ENST00000699856.1:c.*455C>T | ENSP00000514650.1:n.*455C>T | |
| ENST00000699857.1:n.4083C>T | ||
| ENST00000699858.1:c.*2788C>T | ENSP00000514651.1:n.*2788C>T | |
| ENST00000699859.1:c.*240C>T | ENSP00000514652.1:n.*240C>T | |
| ENST00000699860.1:n.2182C>T | ||
| ENST00000699861.1:n.3967C>T | ||
| ENST00000449476.7:c.*238C>T | ENSP00000396018.2:n.*238C>T | |
| ENST00000581671.2:n.3493C>T | ||
| ENST00000643543.1:c.*2211C>T | ENSP00000494323.1:n.*2211C>T | |
| ENST00000651323.1:c.3504C>T MANE Select | ENSP00000498499.1:p.Ile1168= | |
| ENST00000315684.12:c.3504C>T | ENSP00000313759.8:p.Ile1168= | |
| ENST00000449476.6:c.*238C>T | ENSP00000396018.2:n.*238C>T | |
| ENST00000581729.1:c.221C>T | ||
| NM_025099.5:c.3504C>T | NP_079375.3:p.Ile1168= | |
| NR_046431.1:n.3393C>T | ||
| XM_006721577.2:c.3375C>T | XP_006721640.1:p.Ile1125= | |
| XM_006721578.2:c.3273C>T | XP_006721641.1:p.Ile1091= | |
| XM_011524010.1:c.3399C>T | XP_011522312.1:p.Ile1133= | |
| XM_011524011.1:c.2607C>T | XP_011522313.1:p.Ile869= | |
| XR_429823.2:n.3381C>T | ||
| XR_429824.2:n.3482C>T | ||
| NM_025099.6:c.3504C>T MANE Select | NP_079375.3:p.Ile1168= | |
| XM_006721577.3:c.3375C>T | XP_006721640.1:p.Ile1125= | |
| XM_006721578.3:c.3273C>T | XP_006721641.1:p.Ile1091= | |
| XM_011524010.2:c.3399C>T | XP_011522312.1:p.Ile1133= | |
| XM_011524011.2:c.2607C>T | XP_011522313.1:p.Ile869= | |
| XR_001752639.1:n.3355C>T | ||
| XR_001752640.1:n.3503C>T | ||
| XR_001752641.1:n.3438C>T | ||
| XR_001752642.1:n.3288C>T | ||
| XR_002958073.1:n.3794C>T | ||
| XR_429823.3:n.3381C>T | ||
| XR_429824.3:n.3482C>T | ||
| NR_046431.2:n.3354C>T |