Linked Data
dbSNP Id:
rs2421847
ExAC:
1:171557600 A / G
gnomAD v2:
1-171557600-A-G
gnomAD v3:
1-171588461-A-G
gnomAD v4:
1-171588461-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171588461A>G , CM000663.2:g.171588461A>G | GRCh38 |
| NC_000001.10:g.171557600A>G , CM000663.1:g.171557600A>G | GRCh37 |
| NC_000001.9:g.169824223A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647382.2:c.8155A>G MANE Select | ENSP00000495867.2:p.Thr2719Ala | |
| ENST00000644916.1:c.2325A>G | ||
| ENST00000647382.1:c.2730A>G | ||
| ENST00000338920.8:c.8149A>G | ENSP00000343629.4:p.Thr2717Ala | |
| ENST00000367742.7:c.8155A>G | ENSP00000356716.3:p.Thr2719Ala | |
| ENST00000426496.6:c.8149A>G | ENSP00000410219.3:p.Thr2717Ala | |
| ENST00000492811.1:n.173A>G | ||
| ENST00000495585.1:c.3597A>G | ||
| ENST00000498596.5:n.336A>G | ||
| NM_015172.3:c.8149A>G | NP_055987.2:p.Thr2717Ala | |
| XM_005245015.1:c.8170A>G | XP_005245072.1:p.Thr2724Ala | |
| XM_005245016.3:c.8164A>G | XP_005245073.1:p.Thr2722Ala | |
| XM_005245017.1:c.8155A>G | XP_005245074.1:p.Thr2719Ala | |
| XM_005245018.1:c.8155A>G | XP_005245075.1:p.Thr2719Ala | |
| XM_005245019.1:c.8068A>G | XP_005245076.1:p.Thr2690Ala | |
| XM_005245020.1:c.8170A>G | XP_005245077.1:p.Thr2724Ala | |
| XM_005245023.1:c.8170A>G | XP_005245080.1:p.Thr2724Ala | |
| XM_005245024.1:c.8155A>G | XP_005245081.1:p.Thr2719Ala | |
| XM_005245025.1:c.8170A>G | XP_005245082.1:p.Thr2724Ala | |
| XM_005245026.1:c.8155A>G | XP_005245083.1:p.Thr2719Ala | |
| XM_005245027.1:c.8066A>G | XP_005245084.1:p.His2689Arg | |
| XM_005245028.1:c.8066A>G | XP_005245085.1:p.His2689Arg | |
| XM_005245029.1:c.8051A>G | XP_005245086.1:p.His2684Arg | |
| XM_005245030.3:c.8066A>G | XP_005245087.1:p.His2689Arg | |
| XM_006711238.2:c.8149A>G | XP_006711301.1:p.Thr2717Ala | |
| XM_011509343.1:c.8005A>G | XP_011507645.1:p.Thr2669Ala | |
| XM_005245015.2:c.8170A>G | XP_005245072.1:p.Thr2724Ala | |
| XM_005245016.5:c.8164A>G | XP_005245073.1:p.Thr2722Ala | |
| XM_005245017.2:c.8155A>G | XP_005245074.1:p.Thr2719Ala | |
| XM_005245018.3:c.8155A>G | XP_005245075.1:p.Thr2719Ala | |
| XM_005245019.2:c.8068A>G | XP_005245076.1:p.Thr2690Ala | |
| XM_005245020.2:c.8170A>G | XP_005245077.1:p.Thr2724Ala | |
| XM_005245023.2:c.8170A>G | XP_005245080.1:p.Thr2724Ala | |
| XM_005245024.2:c.8155A>G | XP_005245081.1:p.Thr2719Ala | |
| XM_005245025.2:c.8170A>G | XP_005245082.1:p.Thr2724Ala | |
| XM_005245026.2:c.8155A>G | XP_005245083.1:p.Thr2719Ala | |
| XM_005245027.2:c.8066A>G | XP_005245084.1:p.His2689Arg | |
| XM_005245028.2:c.8066A>G | XP_005245085.1:p.His2689Arg | |
| XM_005245029.2:c.8051A>G | XP_005245086.1:p.His2684Arg | |
| XM_006711238.4:c.8149A>G | XP_006711301.1:p.Thr2717Ala | |
| XM_017000760.2:c.8149A>G | XP_016856249.1:p.Thr2717Ala | |
| XM_017000761.1:c.8155A>G | XP_016856250.1:p.Thr2719Ala | |
| XM_017000762.1:c.8068A>G | XP_016856251.1:p.Thr2690Ala | |
| XR_001737059.1:n.8363A>G | ||
| XR_001737060.1:n.8348A>G | ||
| NM_015172.4:c.8149A>G | NP_055987.2:p.Thr2717Ala | |
| NM_001387844.1:c.8155A>G MANE Select | NP_001374773.1:p.Thr2719Ala |