Linked Data
dbSNP Id:
rs745797291
ExAC:
19:1106407 C / T
gnomAD v2:
19-1106407-C-T
gnomAD v3:
19-1106408-C-T
gnomAD v4:
19-1106408-C-T
COSMIC:
COSM1480540
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106408C>T , CM000681.2:g.1106408C>T | GRCh38 |
| NC_000019.9:g.1106407C>T , CM000681.1:g.1106407C>T | GRCh37 |
| NC_000019.8:g.1057407C>T | NCBI36 |
| NG_050621.1:g.7483C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.621C>T | ENSP00000473614.3:p.Ile207= | |
| ENST00000593032.6:c.490C>T | ENSP00000465828.4:p.Arg164Ter | |
| ENST00000706713.1:c.504C>T | ENSP00000516510.1:p.Ile168= | |
| ENST00000706714.1:c.490C>T | ENSP00000516511.1:p.Arg164Ter | |
| ENST00000706715.1:c.126C>T | ENSP00000516512.1:p.Ile42= | |
| ENST00000354171.13:c.510C>T MANE Select | ENSP00000346103.7:p.Ile170= | |
| ENST00000589115.6:c.485C>T | ENSP00000466872.3:p.Ser162Leu | |
| ENST00000354171.12:c.510C>T | ENSP00000346103.7:p.Ile170= | |
| ENST00000585480.1:c.243C>T | ENSP00000467900.1:p.Ile81= | |
| ENST00000587648.5:c.390C>T | ENSP00000468349.1:p.Ile130= | |
| ENST00000588919.5:c.451C>T | ENSP00000464989.3:p.Arg151Ter | |
| ENST00000589115.5:c.485C>T | ENSP00000466872.2:p.Ser162Leu | |
| ENST00000592940.2:n.881C>T | ||
| ENST00000593032.5:c.490C>T | ENSP00000465828.3:p.Arg164Ter | |
| ENST00000611653.4:c.429C>T | ENSP00000483655.1:p.Ile143= | |
| ENST00000616066.4:c.507C>T | ENSP00000485000.1:p.Ile169= | |
| ENST00000622390.4:c.618C>T | ENSP00000477503.1:p.Ile206= | |
| NM_001039847.2:c.532C>T | NP_001034936.1:p.Arg178Ter | |
| NM_001039848.2:c.621C>T | NP_001034937.1:p.Ile207= | |
| NM_002085.4:c.510C>T | NP_002076.2:p.Ile170= | |
| NM_001039848.3:c.621C>T | NP_001034937.1:p.Ile207= | |
| NM_001039847.3:c.532C>T | NP_001034936.1:p.Arg178Ter | |
| NM_001039848.4:c.621C>T | NP_001034937.1:p.Ile207= | |
| NM_001367832.1:c.429C>T | NP_001354761.1:p.Ile143= | |
| NM_002085.5:c.510C>T MANE Select | NP_002076.2:p.Ile170= |