Linked Data
dbSNP Id:
rs767113684
ExAC:
19:54385609 T / G
gnomAD v2:
19-54385609-T-G
gnomAD v4:
19-53882355-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53882355T>G , CM000681.2:g.53882355T>G | GRCh38 |
| NC_000019.9:g.54385609T>G , CM000681.1:g.54385609T>G | GRCh37 |
| NC_000019.8:g.59077421T>G | NCBI36 |
| NG_009114.1:g.5143T>G , LRG_669:g.5143T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.-140T>G | ENSP00000507230.1:n.-140T>G | |
| ENST00000682268.1:n.159T>G | ||
| ENST00000682902.1:n.163T>G | ||
| ENST00000683513.1:c.-140T>G | ENSP00000506809.1:n.-140T>G | |
| ENST00000263431.4:c.-140T>G MANE Select | ENSP00000263431.3:n.-140T>G | |
| ENST00000263431.3:c.-140T>G | ENSP00000263431.3:n.-140T>G | |
| ENST00000419486.1:c.-327T>G | ENSP00000387919.2:n.-327T>G | |
| ENST00000474397.5:c.-322-202T>G | ENSP00000471271.1:n.-322-202T>G | |
| ENST00000479081.5:c.-322-202T>G | ENSP00000471544.1:n.-322-202T>G | |
| NM_001316329.1:c.-140T>G | NP_001303258.1:n.-140T>G | |
| NM_002739.3:c.-140T>G , LRG_669t1:c.-140T>G | NP_002730.1:n.-140T>G | |
| NM_002739.4:c.-140T>G | NP_002730.1:n.-140T>G | |
| NM_002739.5:c.-140T>G MANE Select | NP_002730.1:n.-140T>G | |
| NM_001316329.2:c.-140T>G | NP_001303258.1:n.-140T>G |