Linked Data
dbSNP Id:
rs149731846
ExAC:
17:80223608 A / C
gnomAD v2:
17-80223608-A-C
gnomAD v3:
17-82265732-A-C
gnomAD v4:
17-82265732-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82265732A>C , CM000679.2:g.82265732A>C | GRCh38 |
| NC_000017.10:g.80223608A>C , CM000679.1:g.80223608A>C | GRCh37 |
| NC_000017.9:g.77816897A>C | NCBI36 |
| NG_012828.1:g.12966T>G | |
| NG_012828.2:g.13011T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392334.7:c.141T>G | ENSP00000376146.2:p.Pro47= | |
| ENST00000314028.11:c.141T>G MANE Select | ENSP00000324464.6:p.Pro47= | |
| ENST00000314028.10:c.141T>G | ENSP00000324464.6:p.Pro47= | |
| ENST00000392334.6:c.141T>G | ENSP00000376146.2:p.Pro47= | |
| ENST00000398519.9:c.141T>G | ENSP00000381531.5:p.Pro47= | |
| ENST00000403276.7:c.141T>G | ENSP00000385769.3:p.Pro47= | |
| ENST00000578194.5:n.347T>G | ||
| ENST00000579308.1:n.166T>G | ||
| ENST00000579316.5:n.198T>G | ||
| ENST00000580061.5:n.141T>G | ||
| ENST00000580446.1:c.76+7574T>G | ENSP00000463757.1:n.76+7574T>G | |
| ENST00000581241.5:n.129T>G | ||
| ENST00000581660.5:c.*179T>G | ENSP00000464551.1:n.*179T>G | |
| ENST00000582844.5:n.99T>G | ||
| ENST00000584472.5:n.226T>G | ||
| ENST00000585026.1:c.*187T>G | ENSP00000462144.1:n.*187T>G | |
| NM_001893.4:c.141T>G | NP_001884.2:p.Pro47= | |
| NM_139062.2:c.141T>G | NP_620693.1:p.Pro47= | |
| NR_110578.1:n.502T>G | ||
| XM_005256336.2:c.141T>G | XP_005256393.1:p.Pro47= | |
| XM_005256337.3:c.141T>G | XP_005256394.1:p.Pro47= | |
| XR_243518.2:n.461T>G | ||
| XR_430028.2:n.461T>G | ||
| XR_933922.1:n.461T>G | ||
| XR_933923.1:n.461T>G | ||
| NM_001363749.1:c.141T>G | NP_001350678.1:p.Pro47= | |
| NM_001893.5:c.141T>G | NP_001884.2:p.Pro47= | |
| NM_139062.3:c.141T>G | NP_620693.1:p.Pro47= | |
| NR_110578.2:n.510T>G | ||
| XM_005256336.4:c.141T>G | XP_005256393.1:p.Pro47= | |
| XR_002957961.1:n.460T>G | ||
| XR_243518.4:n.460T>G | ||
| XR_430028.4:n.460T>G | ||
| XR_933922.3:n.460T>G | ||
| XR_933923.3:n.460T>G | ||
| NM_001363749.2:c.141T>G | NP_001350678.1:p.Pro47= | |
| NM_001893.6:c.141T>G MANE Select | NP_001884.2:p.Pro47= | |
| NM_139062.4:c.141T>G | NP_620693.1:p.Pro47= |