Linked Data
dbSNP Id:
rs201490206
ExAC:
19:1105715 A / T
gnomAD v2:
19-1105715-A-T
gnomAD v4:
19-1105716-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1105716A>T , CM000681.2:g.1105716A>T | GRCh38 |
| NC_000019.9:g.1105715A>T , CM000681.1:g.1105715A>T | GRCh37 |
| NC_000019.8:g.1056715A>T | NCBI36 |
| NG_050621.1:g.6791A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585362.7:c.494A>T | ENSP00000473614.3:p.Asp165Val | |
| ENST00000593032.6:c.302A>T | ENSP00000465828.4:p.Asp101Val | |
| ENST00000706713.1:c.377A>T | ENSP00000516510.1:p.Asp126Val | |
| ENST00000706714.1:c.302A>T | ENSP00000516511.1:p.Asp101Val | |
| ENST00000706715.1:c.-2A>T | ENSP00000516512.1:n.-2A>T | |
| ENST00000354171.13:c.383A>T MANE Select | ENSP00000346103.7:p.Asp128Val | |
| ENST00000589115.6:c.383A>T | ENSP00000466872.3:p.Asp128Val | |
| ENST00000354171.12:c.383A>T | ENSP00000346103.7:p.Asp128Val | |
| ENST00000585362.6:c.494A>T | ENSP00000473614.2:p.Asp165Val | |
| ENST00000585480.1:c.116A>T | ENSP00000467900.1:p.Asp39Val | |
| ENST00000587648.5:c.263A>T | ENSP00000468349.1:p.Asp88Val | |
| ENST00000588919.5:c.302A>T | ENSP00000464989.3:p.Asp101Val | |
| ENST00000589115.5:c.383A>T | ENSP00000466872.2:p.Asp128Val | |
| ENST00000592940.2:n.322A>T | ||
| ENST00000593032.5:c.302A>T | ENSP00000465828.3:p.Asp101Val | |
| ENST00000611653.4:c.302A>T | ENSP00000483655.1:p.Asp101Val | |
| ENST00000616066.4:c.380A>T | ENSP00000485000.1:p.Asp127Val | |
| ENST00000622390.4:c.491A>T | ENSP00000477503.1:p.Asp164Val | |
| NM_001039847.2:c.383A>T | NP_001034936.1:p.Asp128Val | |
| NM_001039848.2:c.494A>T | NP_001034937.1:p.Asp165Val | |
| NM_002085.4:c.383A>T | NP_002076.2:p.Asp128Val | |
| NM_001039848.3:c.494A>T | NP_001034937.1:p.Asp165Val | |
| NM_001039847.3:c.383A>T | NP_001034936.1:p.Asp128Val | |
| NM_001039848.4:c.494A>T | NP_001034937.1:p.Asp165Val | |
| NM_001367832.1:c.302A>T | NP_001354761.1:p.Asp101Val | |
| NM_002085.5:c.383A>T MANE Select | NP_002076.2:p.Asp128Val |