Linked Data
dbSNP Id:
rs770665061
ExAC:
19:1106579 A / G
gnomAD v2:
19-1106579-A-G
gnomAD v4:
19-1106580-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106580A>G , CM000681.2:g.1106580A>G | GRCh38 |
| NC_000019.9:g.1106579A>G , CM000681.1:g.1106579A>G | GRCh37 |
| NC_000019.8:g.1057579A>G | NCBI36 |
| NG_050621.1:g.7655A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.*8A>G | ENSP00000473614.3:n.*8A>G | |
| ENST00000593032.6:c.582A>G | ENSP00000465828.4:p.Gln194= | |
| ENST00000706713.1:c.*8A>G | ENSP00000516510.1:n.*8A>G | |
| ENST00000706714.1:c.582A>G | ENSP00000516511.1:p.Gln194= | |
| ENST00000706715.1:c.*8A>G | ENSP00000516512.1:n.*8A>G | |
| ENST00000354171.13:c.*8A>G MANE Select | ENSP00000346103.7:n.*8A>G | |
| ENST00000589115.6:c.*34A>G | ENSP00000466872.3:n.*34A>G | |
| ENST00000354171.12:c.*8A>G | ENSP00000346103.7:n.*8A>G | |
| ENST00000585480.1:c.302A>G | ENSP00000467900.1:p.Lys101Arg | |
| ENST00000588919.5:c.543A>G | ENSP00000464989.3:p.Gln181= | |
| ENST00000589115.5:c.*34A>G | ENSP00000466872.2:n.*34A>G | |
| ENST00000592940.2:n.973A>G | ||
| ENST00000611653.4:c.*8A>G | ENSP00000483655.1:n.*8A>G | |
| ENST00000616066.4:c.*8A>G | ENSP00000485000.1:n.*8A>G | |
| ENST00000622390.4:c.*8A>G | ENSP00000477503.1:n.*8A>G | |
| NM_001039847.2:c.624A>G | NP_001034936.1:p.Gln208= | |
| NM_001039848.2:c.*8A>G | NP_001034937.1:n.*8A>G | |
| NM_002085.4:c.*8A>G | NP_002076.2:n.*8A>G | |
| NM_001039848.3:c.*8A>G | NP_001034937.1:n.*8A>G | |
| NM_001039847.3:c.624A>G | NP_001034936.1:p.Gln208= | |
| NM_001039848.4:c.*8A>G | NP_001034937.1:n.*8A>G | |
| NM_001367832.1:c.*8A>G | NP_001354761.1:n.*8A>G | |
| NM_002085.5:c.*8A>G MANE Select | NP_002076.2:n.*8A>G |