Linked Data
dbSNP Id:
rs766958268
ExAC:
17:37881049 C / T
gnomAD v2:
17-37881049-C-T
gnomAD v4:
17-39724796-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724796C>T , CM000679.2:g.39724796C>T | GRCh38 |
| NC_000017.10:g.37881049C>T , CM000679.1:g.37881049C>T | GRCh37 |
| NC_000017.9:g.35134575C>T | NCBI36 |
| NG_007503.1:g.41657C>T , LRG_724:g.41657C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2378C>T MANE Select | ENSP00000269571.4:p.Thr793Met | |
| ENST00000269571.9:c.2378C>T | ENSP00000269571.4:p.Thr793Met | |
| ENST00000406381.6:c.2288C>T | ENSP00000385185.2:p.Thr763Met | |
| ENST00000445658.6:c.1550C>T | ENSP00000404047.2:p.Thr517Met | |
| ENST00000541774.5:c.2333C>T | ENSP00000446466.1:p.Thr778Met | |
| ENST00000578373.5:c.*2168C>T | ENSP00000463427.1:n.*2168C>T | |
| ENST00000580074.1:c.484C>T | ||
| ENST00000583038.5:n.3512C>T | ||
| ENST00000584450.5:c.2378C>T | ENSP00000463714.1:p.Thr793Met | |
| ENST00000584601.5:c.2288C>T | ENSP00000462438.1:p.Thr763Met | |
| NM_001005862.2:c.2288C>T , LRG_724t1:c.2288C>T | NP_001005862.1:p.Thr763Met | |
| NM_001289936.1:c.2333C>T , LRG_724t4:c.2333C>T | NP_001276865.1:p.Thr778Met | |
| NM_001289937.1:c.2378C>T | NP_001276866.1:p.Thr793Met | |
| NM_004448.3:c.2378C>T , LRG_724t2:c.2378C>T | NP_004439.2:p.Thr793Met | |
| NR_110535.1:n.2702C>T | ||
| XM_024450641.1:c.2516C>T | XP_024306409.1:p.Thr839Met | |
| XM_024450642.1:c.2471C>T | XP_024306410.1:p.Thr824Met | |
| XM_024450643.1:c.2426C>T | XP_024306411.1:p.Thr809Met | |
| NM_001005862.3:c.2288C>T | NP_001005862.1:p.Thr763Met | |
| NM_001289936.2:c.2333C>T | NP_001276865.1:p.Thr778Met | |
| NM_001289937.2:c.2378C>T | NP_001276866.1:p.Thr793Met | |
| NM_001382782.1:c.2288C>T | NP_001369711.1:p.Thr763Met | |
| NM_001382783.1:c.2288C>T | NP_001369712.1:p.Thr763Met | |
| NM_001382784.1:c.2495C>T | NP_001369713.1:p.Thr832Met | |
| NM_001382785.1:c.2480C>T | NP_001369714.1:p.Thr827Met | |
| NM_001382786.1:c.2459C>T | NP_001369715.1:p.Thr820Met | |
| NM_001382787.1:c.2453C>T | NP_001369716.1:p.Thr818Met | |
| NM_001382788.1:c.2408C>T | NP_001369717.1:p.Thr803Met | |
| NM_001382789.1:c.2399C>T | NP_001369718.1:p.Thr800Met | |
| NM_001382790.1:c.2375C>T | NP_001369719.1:p.Thr792Met | |
| NM_001382791.1:c.2369C>T | NP_001369720.1:p.Thr790Met | |
| NM_001382792.1:c.2342C>T | NP_001369721.1:p.Thr781Met | |
| NM_001382793.1:c.2336C>T | NP_001369722.1:p.Thr779Met | |
| NM_001382794.1:c.2336C>T | NP_001369723.1:p.Thr779Met | |
| NM_001382795.1:c.2330C>T | NP_001369724.1:p.Thr777Met | |
| NM_001382796.1:c.2378C>T | NP_001369725.1:p.Thr793Met | |
| NM_001382797.1:c.2279C>T | NP_001369726.1:p.Thr760Met | |
| NM_001382798.1:c.2378C>T | NP_001369727.1:p.Thr793Met | |
| NM_001382799.1:c.2198C>T | NP_001369728.1:p.Thr733Met | |
| NM_001382800.1:c.2308-253C>T | NP_001369729.1:n.2308-253C>T | |
| NM_001382801.1:c.2330C>T | NP_001369730.1:p.Thr777Met | |
| NM_001382802.1:c.2120C>T | NP_001369731.1:p.Thr707Met | |
| NM_001382803.1:c.2336C>T | NP_001369732.1:p.Thr779Met | |
| NM_001382804.1:c.1550C>T | NP_001369733.1:p.Thr517Met | |
| NM_001382805.1:c.2208+1136C>T | NP_001369734.1:n.2208+1136C>T | |
| NM_001382806.1:c.1340C>T | NP_001369735.1:p.Thr447Met | |
| NM_004448.4:c.2378C>T MANE Select | NP_004439.2:p.Thr793Met | |
| NR_110535.2:n.2616C>T |