Linked Data
dbSNP Id:
rs368588689
ExAC:
19:1106247 C / G
gnomAD v2:
19-1106247-C-G
gnomAD v4:
19-1106248-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106248C>G , CM000681.2:g.1106248C>G | GRCh38 |
| NC_000019.9:g.1106247C>G , CM000681.1:g.1106247C>G | GRCh37 |
| NC_000019.8:g.1057247C>G | NCBI36 |
| NG_050621.1:g.7323C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.594C>G | ENSP00000473614.3:p.Ile198Met | |
| ENST00000593032.6:c.463C>G | ENSP00000465828.4:p.Gln155Glu | |
| ENST00000706713.1:c.477C>G | ENSP00000516510.1:p.Ile159Met | |
| ENST00000706714.1:c.463C>G | ENSP00000516511.1:p.Gln155Glu | |
| ENST00000706715.1:c.99C>G | ENSP00000516512.1:p.Ile33Met | |
| ENST00000354171.13:c.483C>G MANE Select | ENSP00000346103.7:p.Ile161Met | |
| ENST00000589115.6:c.477-152C>G | ENSP00000466872.3:n.477-152C>G | |
| ENST00000354171.12:c.483C>G | ENSP00000346103.7:p.Ile161Met | |
| ENST00000585480.1:c.216C>G | ENSP00000467900.1:p.Ile72Met | |
| ENST00000587648.5:c.363C>G | ENSP00000468349.1:p.Ile121Met | |
| ENST00000588919.5:c.402C>G | ENSP00000464989.3:p.Ile134Met | |
| ENST00000589115.5:c.477-152C>G | ENSP00000466872.2:n.477-152C>G | |
| ENST00000592940.2:n.854C>G | ||
| ENST00000593032.5:c.463C>G | ENSP00000465828.3:p.Gln155Glu | |
| ENST00000611653.4:c.402C>G | ENSP00000483655.1:p.Ile134Met | |
| ENST00000616066.4:c.480C>G | ENSP00000485000.1:p.Ile160Met | |
| ENST00000622390.4:c.591C>G | ENSP00000477503.1:p.Ile197Met | |
| NM_001039847.2:c.483C>G | NP_001034936.1:p.Ile161Met | |
| NM_001039848.2:c.594C>G | NP_001034937.1:p.Ile198Met | |
| NM_002085.4:c.483C>G | NP_002076.2:p.Ile161Met | |
| NM_001039848.3:c.594C>G | NP_001034937.1:p.Ile198Met | |
| NM_001039847.3:c.483C>G | NP_001034936.1:p.Ile161Met | |
| NM_001039848.4:c.594C>G | NP_001034937.1:p.Ile198Met | |
| NM_001367832.1:c.402C>G | NP_001354761.1:p.Ile134Met | |
| NM_002085.5:c.483C>G MANE Select | NP_002076.2:p.Ile161Met |