Linked Data
ClinVar Variation Id:
448129
ClinVar RCV Id:
RCV003482270
dbSNP Id:
rs759781185
ExAC:
19:54393013 C / G
gnomAD v2:
19-54393013-C-G
gnomAD v3:
19-53889759-C-G
gnomAD v4:
19-53889759-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53889759C>G , CM000681.2:g.53889759C>G | GRCh38 |
| NC_000019.9:g.54393013C>G , CM000681.1:g.54393013C>G | GRCh37 |
| NC_000019.8:g.59084825C>G | NCBI36 |
| NG_009114.1:g.12547C>G , LRG_669:g.12547C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.397+10C>G | ENSP00000507230.1:n.397+10C>G | |
| ENST00000682268.1:n.695+10C>G | ||
| ENST00000682902.1:n.699+10C>G | ||
| ENST00000683513.1:c.397+10C>G | ENSP00000506809.1:n.397+10C>G | |
| ENST00000263431.4:c.397+10C>G MANE Select | ENSP00000263431.3:n.397+10C>G | |
| ENST00000263431.3:c.397+10C>G | ENSP00000263431.3:n.397+10C>G | |
| ENST00000419486.1:c.13+10C>G | ENSP00000387919.2:n.13+10C>G | |
| ENST00000474397.5:c.13+10C>G | ENSP00000471271.1:n.13+10C>G | |
| ENST00000479081.5:c.13+10C>G | ENSP00000471544.1:n.13+10C>G | |
| NM_001316329.1:c.397+10C>G | NP_001303258.1:n.397+10C>G | |
| NM_002739.3:c.397+10C>G , LRG_669t1:c.397+10C>G | NP_002730.1:n.397+10C>G | |
| NM_002739.4:c.397+10C>G | NP_002730.1:n.397+10C>G | |
| NM_002739.5:c.397+10C>G MANE Select | NP_002730.1:n.397+10C>G | |
| NM_001316329.2:c.397+10C>G | NP_001303258.1:n.397+10C>G |