Linked Data
dbSNP Id:
rs779529317
ExAC:
19:1106243 C / A
gnomAD v2:
19-1106243-C-A
gnomAD v3:
19-1106244-C-A
gnomAD v4:
19-1106244-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106244C>A , CM000681.2:g.1106244C>A | GRCh38 |
| NC_000019.9:g.1106243C>A , CM000681.1:g.1106243C>A | GRCh37 |
| NC_000019.8:g.1057243C>A | NCBI36 |
| NG_050621.1:g.7319C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.590C>A | ENSP00000473614.3:p.Ala197Asp | |
| ENST00000593032.6:c.459C>A | ENSP00000465828.4:p.Cys153Ter | |
| ENST00000706713.1:c.473C>A | ENSP00000516510.1:p.Ala158Asp | |
| ENST00000706714.1:c.459C>A | ENSP00000516511.1:p.Cys153Ter | |
| ENST00000706715.1:c.95C>A | ENSP00000516512.1:p.Ala32Asp | |
| ENST00000354171.13:c.479C>A MANE Select | ENSP00000346103.7:p.Ala160Asp | |
| ENST00000589115.6:c.477-156C>A | ENSP00000466872.3:n.477-156C>A | |
| ENST00000354171.12:c.479C>A | ENSP00000346103.7:p.Ala160Asp | |
| ENST00000585480.1:c.212C>A | ENSP00000467900.1:p.Ala71Asp | |
| ENST00000587648.5:c.359C>A | ENSP00000468349.1:p.Ala120Asp | |
| ENST00000588919.5:c.398C>A | ENSP00000464989.3:p.Ala133Asp | |
| ENST00000589115.5:c.477-156C>A | ENSP00000466872.2:n.477-156C>A | |
| ENST00000592940.2:n.850C>A | ||
| ENST00000593032.5:c.459C>A | ENSP00000465828.3:p.Cys153Ter | |
| ENST00000611653.4:c.398C>A | ENSP00000483655.1:p.Ala133Asp | |
| ENST00000616066.4:c.476C>A | ENSP00000485000.1:p.Ala159Asp | |
| ENST00000622390.4:c.587C>A | ENSP00000477503.1:p.Ala196Asp | |
| NM_001039847.2:c.479C>A | NP_001034936.1:p.Ala160Asp | |
| NM_001039848.2:c.590C>A | NP_001034937.1:p.Ala197Asp | |
| NM_002085.4:c.479C>A | NP_002076.2:p.Ala160Asp | |
| NM_001039848.3:c.590C>A | NP_001034937.1:p.Ala197Asp | |
| NM_001039847.3:c.479C>A | NP_001034936.1:p.Ala160Asp | |
| NM_001039848.4:c.590C>A | NP_001034937.1:p.Ala197Asp | |
| NM_001367832.1:c.398C>A | NP_001354761.1:p.Ala133Asp | |
| NM_002085.5:c.479C>A MANE Select | NP_002076.2:p.Ala160Asp |