Linked Data
dbSNP Id:
rs751121983
ExAC:
19:1106245 A / G
gnomAD v2:
19-1106245-A-G
gnomAD v4:
19-1106246-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106246A>G , CM000681.2:g.1106246A>G | GRCh38 |
| NC_000019.9:g.1106245A>G , CM000681.1:g.1106245A>G | GRCh37 |
| NC_000019.8:g.1057245A>G | NCBI36 |
| NG_050621.1:g.7321A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.592A>G | ENSP00000473614.3:p.Ile198Val | |
| ENST00000593032.6:c.461A>G | ENSP00000465828.4:p.His154Arg | |
| ENST00000706713.1:c.475A>G | ENSP00000516510.1:p.Ile159Val | |
| ENST00000706714.1:c.461A>G | ENSP00000516511.1:p.His154Arg | |
| ENST00000706715.1:c.97A>G | ENSP00000516512.1:p.Ile33Val | |
| ENST00000354171.13:c.481A>G MANE Select | ENSP00000346103.7:p.Ile161Val | |
| ENST00000589115.6:c.477-154A>G | ENSP00000466872.3:n.477-154A>G | |
| ENST00000354171.12:c.481A>G | ENSP00000346103.7:p.Ile161Val | |
| ENST00000585480.1:c.214A>G | ENSP00000467900.1:p.Ile72Val | |
| ENST00000587648.5:c.361A>G | ENSP00000468349.1:p.Ile121Val | |
| ENST00000588919.5:c.400A>G | ENSP00000464989.3:p.Ile134Val | |
| ENST00000589115.5:c.477-154A>G | ENSP00000466872.2:n.477-154A>G | |
| ENST00000592940.2:n.852A>G | ||
| ENST00000593032.5:c.461A>G | ENSP00000465828.3:p.His154Arg | |
| ENST00000611653.4:c.400A>G | ENSP00000483655.1:p.Ile134Val | |
| ENST00000616066.4:c.478A>G | ENSP00000485000.1:p.Ile160Val | |
| ENST00000622390.4:c.589A>G | ENSP00000477503.1:p.Ile197Val | |
| NM_001039847.2:c.481A>G | NP_001034936.1:p.Ile161Val | |
| NM_001039848.2:c.592A>G | NP_001034937.1:p.Ile198Val | |
| NM_002085.4:c.481A>G | NP_002076.2:p.Ile161Val | |
| NM_001039848.3:c.592A>G | NP_001034937.1:p.Ile198Val | |
| NM_001039847.3:c.481A>G | NP_001034936.1:p.Ile161Val | |
| NM_001039848.4:c.592A>G | NP_001034937.1:p.Ile198Val | |
| NM_001367832.1:c.400A>G | NP_001354761.1:p.Ile134Val | |
| NM_002085.5:c.481A>G MANE Select | NP_002076.2:p.Ile161Val |