Linked Data
ClinVar Variation Id:
966547
dbSNP Id:
rs201370388
ExAC:
17:7124966 C / T
gnomAD v2:
17-7124966-C-T
gnomAD v3:
17-7221647-C-T
gnomAD v4:
17-7221647-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221647C>T , CM000679.2:g.7221647C>T | GRCh38 |
| NC_000017.10:g.7124966C>T , CM000679.1:g.7124966C>T | GRCh37 |
| NC_000017.9:g.7065690C>T | NCBI36 |
| NG_007975.1:g.6814C>T | |
| NG_008391.2:g.3404G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.587C>T MANE Select | ENSP00000349297.5:p.Ala196Val | |
| ENST00000322910.9:c.*542C>T | ENSP00000325395.5:n.*542C>T | |
| ENST00000350303.9:c.521C>T | ENSP00000344152.5:p.Ala174Val | |
| ENST00000356839.9:c.587C>T | ENSP00000349297.5:p.Ala196Val | |
| ENST00000543245.6:c.656C>T | ENSP00000438689.2:p.Ala219Val | |
| ENST00000577191.5:n.664C>T | ||
| ENST00000577433.5:n.795C>T | ||
| ENST00000577857.5:n.403C>T | ||
| ENST00000579286.5:n.768C>T | ||
| ENST00000579886.2:c.425C>T | ENSP00000463246.1:p.Ala142Val | |
| ENST00000580365.1:n.318C>T | ||
| ENST00000581378.5:c.305C>T | ||
| ENST00000581562.5:n.525-305C>T | ||
| ENST00000583312.5:c.587C>T | ENSP00000467920.1:p.Ala196Val | |
| ENST00000583760.1:n.369C>T | ||
| NM_000018.3:c.587C>T | NP_000009.1:p.Ala196Val | |
| NM_001033859.2:c.521C>T | NP_001029031.1:p.Ala174Val | |
| NM_001270447.1:c.656C>T | NP_001257376.1:p.Ala219Val | |
| NM_001270448.1:c.359C>T | NP_001257377.1:p.Ala120Val | |
| XM_006721516.2:c.587C>T | XP_006721579.2:p.Ala196Val | |
| XM_011523829.1:c.587C>T | XP_011522131.1:p.Ala196Val | |
| XM_011523830.1:c.587C>T | XP_011522132.1:p.Ala196Val | |
| XR_934021.1:n.694C>T | ||
| XR_934022.1:n.694C>T | ||
| XR_934023.1:n.694C>T | ||
| XM_006721516.3:c.587C>T | XP_006721579.2:p.Ala196Val | |
| XM_011523829.2:c.587C>T | XP_011522131.1:p.Ala196Val | |
| XM_011523830.2:c.587C>T | XP_011522132.1:p.Ala196Val | |
| XM_024450741.1:c.587C>T | XP_024306509.1:p.Ala196Val | |
| XR_934021.2:n.646C>T | ||
| XR_934022.2:n.646C>T | ||
| XR_934023.2:n.646C>T | ||
| NM_000018.4:c.587C>T MANE Select | NP_000009.1:p.Ala196Val | |
| NM_001033859.3:c.521C>T | NP_001029031.1:p.Ala174Val | |
| NM_001270447.2:c.656C>T | NP_001257376.1:p.Ala219Val | |
| NM_001270448.2:c.359C>T | NP_001257377.1:p.Ala120Val |