Linked Data
dbSNP Id:
rs757133049
ExAC:
19:1106393 C / G
gnomAD v2:
19-1106393-C-G
gnomAD v4:
19-1106394-C-G
MyVariant Identifiers:
chr19:g.1106393C>G (hg19)
chr19:g.1106393_1106395delinsGCA (hg19)
chr19:g.1106394C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106394C>G , CM000681.2:g.1106394C>G | GRCh38 |
| NC_000019.9:g.1106393C>G , CM000681.1:g.1106393C>G | GRCh37 |
| NC_000019.8:g.1057393C>G | NCBI36 |
| NG_050621.1:g.7469C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.613-6C>G | ENSP00000473614.3:n.613-6C>G | |
| ENST00000593032.6:c.482-6C>G | ENSP00000465828.4:n.482-6C>G | |
| ENST00000706713.1:c.496-6C>G | ENSP00000516510.1:n.496-6C>G | |
| ENST00000706714.1:c.482-6C>G | ENSP00000516511.1:n.482-6C>G | |
| ENST00000706715.1:c.118-6C>G | ENSP00000516512.1:n.118-6C>G | |
| ENST00000354171.13:c.502-6C>G MANE Select | ENSP00000346103.7:n.502-6C>G | |
| ENST00000589115.6:c.477-6C>G | ENSP00000466872.3:n.477-6C>G | |
| ENST00000354171.12:c.502-6C>G | ENSP00000346103.7:n.502-6C>G | |
| ENST00000585480.1:c.235-6C>G | ENSP00000467900.1:n.235-6C>G | |
| ENST00000587648.5:c.382-6C>G | ENSP00000468349.1:n.382-6C>G | |
| ENST00000588919.5:c.437C>G | ENSP00000464989.3:p.Ser146Cys | |
| ENST00000589115.5:c.477-6C>G | ENSP00000466872.2:n.477-6C>G | |
| ENST00000592940.2:n.873-6C>G | ||
| ENST00000593032.5:c.482-6C>G | ENSP00000465828.3:n.482-6C>G | |
| ENST00000611653.4:c.421-6C>G | ENSP00000483655.1:n.421-6C>G | |
| ENST00000616066.4:c.499-6C>G | ENSP00000485000.1:n.499-6C>G | |
| ENST00000622390.4:c.610-6C>G | ENSP00000477503.1:n.610-6C>G | |
| NM_001039847.2:c.518C>G | NP_001034936.1:p.Ser173Cys | |
| NM_001039848.2:c.613-6C>G | NP_001034937.1:n.613-6C>G | |
| NM_002085.4:c.502-6C>G | NP_002076.2:n.502-6C>G | |
| NM_001039848.3:c.613-6C>G | NP_001034937.1:n.613-6C>G | |
| NM_001039847.3:c.518C>G | NP_001034936.1:p.Ser173Cys | |
| NM_001039848.4:c.613-6C>G | NP_001034937.1:n.613-6C>G | |
| NM_001367832.1:c.421-6C>G | NP_001354761.1:n.421-6C>G | |
| NM_002085.5:c.502-6C>G MANE Select | NP_002076.2:n.502-6C>G |