Linked Data
dbSNP Id:
rs752207175
ExAC:
19:1106386 C / A
gnomAD v2:
19-1106386-C-A
gnomAD v4:
19-1106387-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106387C>A , CM000681.2:g.1106387C>A | GRCh38 |
| NC_000019.9:g.1106386C>A , CM000681.1:g.1106386C>A | GRCh37 |
| NC_000019.8:g.1057386C>A | NCBI36 |
| NG_050621.1:g.7462C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.613-13C>A | ENSP00000473614.3:n.613-13C>A | |
| ENST00000593032.6:c.482-13C>A | ENSP00000465828.4:n.482-13C>A | |
| ENST00000706713.1:c.496-13C>A | ENSP00000516510.1:n.496-13C>A | |
| ENST00000706714.1:c.482-13C>A | ENSP00000516511.1:n.482-13C>A | |
| ENST00000706715.1:c.118-13C>A | ENSP00000516512.1:n.118-13C>A | |
| ENST00000354171.13:c.502-13C>A MANE Select | ENSP00000346103.7:n.502-13C>A | |
| ENST00000589115.6:c.477-13C>A | ENSP00000466872.3:n.477-13C>A | |
| ENST00000354171.12:c.502-13C>A | ENSP00000346103.7:n.502-13C>A | |
| ENST00000585480.1:c.235-13C>A | ENSP00000467900.1:n.235-13C>A | |
| ENST00000587648.5:c.382-13C>A | ENSP00000468349.1:n.382-13C>A | |
| ENST00000588919.5:c.430C>A | ENSP00000464989.3:p.Arg144Ser | |
| ENST00000589115.5:c.477-13C>A | ENSP00000466872.2:n.477-13C>A | |
| ENST00000592940.2:n.873-13C>A | ||
| ENST00000593032.5:c.482-13C>A | ENSP00000465828.3:n.482-13C>A | |
| ENST00000611653.4:c.421-13C>A | ENSP00000483655.1:n.421-13C>A | |
| ENST00000616066.4:c.499-13C>A | ENSP00000485000.1:n.499-13C>A | |
| ENST00000622390.4:c.610-13C>A | ENSP00000477503.1:n.610-13C>A | |
| NM_001039847.2:c.511C>A | NP_001034936.1:p.Arg171Ser | |
| NM_001039848.2:c.613-13C>A | NP_001034937.1:n.613-13C>A | |
| NM_002085.4:c.502-13C>A | NP_002076.2:n.502-13C>A | |
| NM_001039848.3:c.613-13C>A | NP_001034937.1:n.613-13C>A | |
| NM_001039847.3:c.511C>A | NP_001034936.1:p.Arg171Ser | |
| NM_001039848.4:c.613-13C>A | NP_001034937.1:n.613-13C>A | |
| NM_001367832.1:c.421-13C>A | NP_001354761.1:n.421-13C>A | |
| NM_002085.5:c.502-13C>A MANE Select | NP_002076.2:n.502-13C>A |