Linked Data
dbSNP Id:
rs1308651408
gnomAD v2:
19-1106734-C-T
gnomAD v3:
19-1106735-C-T
gnomAD v4:
19-1106735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106735C>T , CM000681.2:g.1106735C>T | GRCh38 |
| NC_000019.9:g.1106734C>T , CM000681.1:g.1106734C>T | GRCh37 |
| NC_000019.8:g.1057734C>T | NCBI36 |
| NG_050621.1:g.7810C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.*163C>T | ENSP00000473614.3:n.*163C>T | |
| ENST00000593032.6:c.737C>T | ENSP00000465828.4:p.Ala246Val | |
| ENST00000706713.1:c.*163C>T | ENSP00000516510.1:n.*163C>T | |
| ENST00000706714.1:c.737C>T | ENSP00000516511.1:p.Ala246Val | |
| ENST00000706715.1:c.*163C>T | ENSP00000516512.1:n.*163C>T | |
| ENST00000354171.13:c.*163C>T MANE Select | ENSP00000346103.7:n.*163C>T | |
| ENST00000589115.6:c.*189C>T | ENSP00000466872.3:n.*189C>T | |
| ENST00000354171.12:c.*163C>T | ENSP00000346103.7:n.*163C>T | |
| ENST00000585480.1:c.457C>T | ENSP00000467900.1:p.Arg153Cys | |
| ENST00000588919.5:c.698C>T | ENSP00000464989.3:p.Ala233Val | |
| ENST00000589115.5:c.*189C>T | ENSP00000466872.2:n.*189C>T | |
| ENST00000592940.2:n.1128C>T | ||
| ENST00000611653.4:c.*163C>T | ENSP00000483655.1:n.*163C>T | |
| ENST00000616066.4:c.*163C>T | ENSP00000485000.1:n.*163C>T | |
| ENST00000622390.4:c.*163C>T | ENSP00000477503.1:n.*163C>T | |
| NM_001039847.2:c.*95C>T | NP_001034936.1:n.*95C>T | |
| NM_001039848.2:c.*163C>T | NP_001034937.1:n.*163C>T | |
| NM_002085.4:c.*163C>T | NP_002076.2:n.*163C>T | |
| NM_001039848.3:c.*163C>T | NP_001034937.1:n.*163C>T | |
| NM_001039847.3:c.*95C>T | NP_001034936.1:n.*95C>T | |
| NM_001039848.4:c.*163C>T | NP_001034937.1:n.*163C>T | |
| NM_001367832.1:c.*163C>T | NP_001354761.1:n.*163C>T | |
| NM_002085.5:c.*163C>T MANE Select | NP_002076.2:n.*163C>T |