Linked Data
dbSNP Id:
rs748110361
ExAC:
17:61566315 A / G
gnomAD v2:
17-61566315-A-G
gnomAD v4:
17-63488954-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488954A>G , CM000679.2:g.63488954A>G | GRCh38 |
| NC_000017.10:g.61566315A>G , CM000679.1:g.61566315A>G | GRCh37 |
| NC_000017.9:g.58920047A>G | NCBI36 |
| NG_011648.1:g.16882A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2463A>G MANE Select | ENSP00000290866.4:p.Ala821= | |
| ENST00000290863.10:c.741A>G | ENSP00000290863.6:p.Ala247= | |
| ENST00000290866.9:c.2463A>G | ENSP00000290866.4:p.Ala821= | |
| ENST00000413513.7:c.741A>G | ENSP00000392247.3:p.Ala247= | |
| ENST00000428043.5:c.2463A>G | ENSP00000397593.2:p.Ala821= | |
| ENST00000577647.2:c.741A>G | ENSP00000464149.1:p.Ala247= | |
| ENST00000578839.5:c.*519+163A>G | ENSP00000462110.2:n.*519+163A>G | |
| ENST00000579204.1:c.722A>G | ENSP00000464629.1:n.722A>G | |
| ENST00000579314.5:c.*192A>G | ENSP00000462599.1:n.*192A>G | |
| ENST00000582005.5:c.*383A>G | ENSP00000462002.1:n.*383A>G | |
| ENST00000582761.1:c.231A>G | ENSP00000462909.1:p.Ala77= | |
| ENST00000584865.5:n.409A>G | ||
| NM_000789.3:c.2463A>G | NP_000780.1:p.Ala821= | |
| NM_001178057.1:c.741A>G | NP_001171528.1:p.Ala247= | |
| NM_152830.2:c.741A>G | NP_690043.1:p.Ala247= | |
| XM_005257110.1:c.1914A>G | XP_005257167.1:p.Ala638= | |
| XM_006721737.2:c.801A>G | XP_006721800.2:p.Ala267= | |
| XM_006721737.3:c.801A>G | XP_006721800.2:p.Ala267= | |
| NM_000789.4:c.2463A>G MANE Select | NP_000780.1:p.Ala821= | |
| NM_001178057.2:c.741A>G | NP_001171528.1:p.Ala247= | |
| NM_152830.3:c.741A>G | NP_690043.1:p.Ala247= | |
| NM_001382700.1:c.1896A>G | NP_001369629.1:p.Ala632= | |
| NM_001382701.1:c.1611A>G | NP_001369630.1:p.Ala537= | |
| NM_001382702.1:c.379+163A>G | NP_001369631.1:n.379+163A>G | |
| NR_168483.1:n.841A>G |