Linked Data
ClinVar Variation Id:
1108620
ClinVar RCV Id:
RCV001434194
dbSNP Id:
rs113891941
gnomAD v2:
17-7124961-A-G
gnomAD v4:
17-7221642-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221642A>G , CM000679.2:g.7221642A>G | GRCh38 |
| NC_000017.10:g.7124961A>G , CM000679.1:g.7124961A>G | GRCh37 |
| NC_000017.9:g.7065685A>G | NCBI36 |
| NG_007975.1:g.6809A>G | |
| NG_008391.2:g.3409T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.582A>G MANE Select | ENSP00000349297.5:p.Thr194= | |
| ENST00000322910.9:c.*537A>G | ENSP00000325395.5:n.*537A>G | |
| ENST00000350303.9:c.516A>G | ENSP00000344152.5:p.Thr172= | |
| ENST00000356839.9:c.582A>G | ENSP00000349297.5:p.Thr194= | |
| ENST00000543245.6:c.651A>G | ENSP00000438689.2:p.Thr217= | |
| ENST00000577191.5:n.659A>G | ||
| ENST00000577433.5:n.790A>G | ||
| ENST00000577857.5:n.398A>G | ||
| ENST00000579286.5:n.763A>G | ||
| ENST00000579886.2:c.420A>G | ENSP00000463246.1:p.Thr140= | |
| ENST00000580365.1:n.313A>G | ||
| ENST00000581378.5:c.300A>G | ||
| ENST00000581562.5:n.525-310A>G | ||
| ENST00000583312.5:c.582A>G | ENSP00000467920.1:p.Thr194= | |
| ENST00000583760.1:n.364A>G | ||
| NM_000018.3:c.582A>G | NP_000009.1:p.Thr194= | |
| NM_001033859.2:c.516A>G | NP_001029031.1:p.Thr172= | |
| NM_001270447.1:c.651A>G | NP_001257376.1:p.Thr217= | |
| NM_001270448.1:c.354A>G | NP_001257377.1:p.Thr118= | |
| XM_006721516.2:c.582A>G | XP_006721579.2:p.Thr194= | |
| XM_011523829.1:c.582A>G | XP_011522131.1:p.Thr194= | |
| XM_011523830.1:c.582A>G | XP_011522132.1:p.Thr194= | |
| XR_934021.1:n.689A>G | ||
| XR_934022.1:n.689A>G | ||
| XR_934023.1:n.689A>G | ||
| XM_006721516.3:c.582A>G | XP_006721579.2:p.Thr194= | |
| XM_011523829.2:c.582A>G | XP_011522131.1:p.Thr194= | |
| XM_011523830.2:c.582A>G | XP_011522132.1:p.Thr194= | |
| XM_024450741.1:c.582A>G | XP_024306509.1:p.Thr194= | |
| XR_934021.2:n.641A>G | ||
| XR_934022.2:n.641A>G | ||
| XR_934023.2:n.641A>G | ||
| NM_000018.4:c.582A>G MANE Select | NP_000009.1:p.Thr194= | |
| NM_001033859.3:c.516A>G | NP_001029031.1:p.Thr172= | |
| NM_001270447.2:c.651A>G | NP_001257376.1:p.Thr217= | |
| NM_001270448.2:c.354A>G | NP_001257377.1:p.Thr118= |