Linked Data
dbSNP Id:
rs199869667
ExAC:
17:61566029 A / G
gnomAD v2:
17-61566029-A-G
gnomAD v3:
17-63488668-A-G
gnomAD v4:
17-63488668-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488668A>G , CM000679.2:g.63488668A>G | GRCh38 |
| NC_000017.10:g.61566029A>G , CM000679.1:g.61566029A>G | GRCh37 |
| NC_000017.9:g.58919761A>G | NCBI36 |
| NG_011648.1:g.16596A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2326A>G MANE Select | ENSP00000290866.4:p.Thr776Ala | |
| ENST00000290863.10:c.604A>G | ENSP00000290863.6:p.Thr202Ala | |
| ENST00000290866.9:c.2326A>G | ENSP00000290866.4:p.Thr776Ala | |
| ENST00000413513.7:c.604A>G | ENSP00000392247.3:p.Thr202Ala | |
| ENST00000428043.5:c.2326A>G | ENSP00000397593.2:p.Thr776Ala | |
| ENST00000577647.2:c.604A>G | ENSP00000464149.1:p.Thr202Ala | |
| ENST00000578839.5:c.*396A>G | ENSP00000462110.2:n.*396A>G | |
| ENST00000579204.1:c.585A>G | ENSP00000464629.1:n.585A>G | |
| ENST00000579314.5:c.*55A>G | ENSP00000462599.1:n.*55A>G | |
| ENST00000582005.5:c.*246A>G | ENSP00000462002.1:n.*246A>G | |
| ENST00000582761.1:c.94A>G | ENSP00000462909.1:p.Thr32Ala | |
| ENST00000584865.5:n.272A>G | ||
| NM_000789.3:c.2326A>G | NP_000780.1:p.Thr776Ala | |
| NM_001178057.1:c.604A>G | NP_001171528.1:p.Thr202Ala | |
| NM_152830.2:c.604A>G | NP_690043.1:p.Thr202Ala | |
| XM_005257110.1:c.1777A>G | XP_005257167.1:p.Thr593Ala | |
| XM_006721737.2:c.664A>G | XP_006721800.2:p.Thr222Ala | |
| XM_006721737.3:c.664A>G | XP_006721800.2:p.Thr222Ala | |
| NM_000789.4:c.2326A>G MANE Select | NP_000780.1:p.Thr776Ala | |
| NM_001178057.2:c.604A>G | NP_001171528.1:p.Thr202Ala | |
| NM_152830.3:c.604A>G | NP_690043.1:p.Thr202Ala | |
| NM_001382700.1:c.1759A>G | NP_001369629.1:p.Thr587Ala | |
| NM_001382701.1:c.1474A>G | NP_001369630.1:p.Thr492Ala | |
| NM_001382702.1:c.256A>G | NP_001369631.1:p.Thr86Ala | |
| NR_168483.1:n.704A>G |