Linked Data
ClinVar Variation Id:
8741
ClinVar RCV Id:
RCV000009280
dbSNP Id:
rs104894561
ExAC:
17:80223619 T / C
gnomAD v2:
17-80223619-T-C
gnomAD v3:
17-82265743-T-C
gnomAD v4:
17-82265743-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82265743T>C , CM000679.2:g.82265743T>C | GRCh38 |
| NC_000017.10:g.80223619T>C , CM000679.1:g.80223619T>C | GRCh37 |
| NC_000017.9:g.77816908T>C | NCBI36 |
| NG_012828.1:g.12955A>G | |
| NG_012828.2:g.13000A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392334.7:c.130A>G | ENSP00000376146.2:p.Thr44Ala | |
| ENST00000314028.11:c.130A>G MANE Select | ENSP00000324464.6:p.Thr44Ala | |
| ENST00000314028.10:c.130A>G | ENSP00000324464.6:p.Thr44Ala | |
| ENST00000392334.6:c.130A>G | ENSP00000376146.2:p.Thr44Ala | |
| ENST00000398519.9:c.130A>G | ENSP00000381531.5:p.Thr44Ala | |
| ENST00000403276.7:c.130A>G | ENSP00000385769.3:p.Thr44Ala | |
| ENST00000578194.5:n.336A>G | ||
| ENST00000579308.1:n.155A>G | ||
| ENST00000579316.5:n.187A>G | ||
| ENST00000580061.5:n.130A>G | ||
| ENST00000580446.1:c.76+7563A>G | ENSP00000463757.1:n.76+7563A>G | |
| ENST00000581241.5:n.118A>G | ||
| ENST00000581660.5:c.*168A>G | ENSP00000464551.1:n.*168A>G | |
| ENST00000582844.5:n.88A>G | ||
| ENST00000584472.5:n.215A>G | ||
| ENST00000585026.1:c.*176A>G | ENSP00000462144.1:n.*176A>G | |
| NM_001893.4:c.130A>G | NP_001884.2:p.Thr44Ala | |
| NM_139062.2:c.130A>G | NP_620693.1:p.Thr44Ala | |
| NR_110578.1:n.491A>G | ||
| XM_005256336.2:c.130A>G | XP_005256393.1:p.Thr44Ala | |
| XM_005256337.3:c.130A>G | XP_005256394.1:p.Thr44Ala | |
| XR_243518.2:n.450A>G | ||
| XR_430028.2:n.450A>G | ||
| XR_933922.1:n.450A>G | ||
| XR_933923.1:n.450A>G | ||
| NM_001363749.1:c.130A>G | NP_001350678.1:p.Thr44Ala | |
| NM_001893.5:c.130A>G | NP_001884.2:p.Thr44Ala | |
| NM_139062.3:c.130A>G | NP_620693.1:p.Thr44Ala | |
| NR_110578.2:n.499A>G | ||
| XM_005256336.4:c.130A>G | XP_005256393.1:p.Thr44Ala | |
| XR_002957961.1:n.449A>G | ||
| XR_243518.4:n.449A>G | ||
| XR_430028.4:n.449A>G | ||
| XR_933922.3:n.449A>G | ||
| XR_933923.3:n.449A>G | ||
| NM_001363749.2:c.130A>G | NP_001350678.1:p.Thr44Ala | |
| NM_001893.6:c.130A>G MANE Select | NP_001884.2:p.Thr44Ala | |
| NM_139062.4:c.130A>G | NP_620693.1:p.Thr44Ala |